ABCC10 (ATP binding cassette subfamily C member 10) - Rat Genome Database

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Gene: ABCC10 (ATP binding cassette subfamily C member 10) Homo sapiens
Analyze
Symbol: ABCC10
Name: ATP binding cassette subfamily C member 10
RGD ID: 1315462
HGNC Page HGNC:52
Description: Enables ABC-type glutathione S-conjugate transporter activity and ABC-type xenobiotic transporter activity. Involved in leukotriene metabolic process and leukotriene transport. Located in basolateral plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-binding cassette sub-family C member 10; ATP-binding cassette, sub-family C (CFTR/MRP), member 10; EST182763; MRP7; multidrug resistance-associated protein 7; SIMRP7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38643,427,541 - 43,451,994 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl643,427,366 - 43,450,430 (+)EnsemblGRCh38hg38GRCh38
GRCh37643,395,279 - 43,418,165 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36643,507,467 - 43,526,141 (+)NCBINCBI36Build 36hg18NCBI36
Build 34643,507,466 - 43,526,141NCBI
Celera644,951,089 - 44,969,748 (+)NCBICelera
Cytogenetic Map6p21.1NCBI
HuRef643,113,792 - 43,136,645 (+)NCBIHuRef
CHM1_1643,398,442 - 43,421,307 (+)NCBICHM1_1
T2T-CHM13v2.0643,256,321 - 43,280,761 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Transport of xenobiotics across the blood-brain barrier. Hagenbuch B, etal., News Physiol Sci 2002 Dec;17:231-4.
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8894702   PMID:11146224   PMID:12477932   PMID:12527806   PMID:12566991   PMID:14574404   PMID:14702039   PMID:15231747   PMID:15256465   PMID:16034073   PMID:17203221   PMID:17897319  
PMID:18974132   PMID:19082471   PMID:19118001   PMID:19150344   PMID:19343046   PMID:19720054   PMID:19841739   PMID:21576088   PMID:21628669   PMID:21873635   PMID:22082652   PMID:22739155  
PMID:23087055   PMID:24431074   PMID:24937672   PMID:26186194   PMID:26655271   PMID:27468921   PMID:28051999   PMID:28112518   PMID:28514442   PMID:28612064   PMID:28986522   PMID:30890141  
PMID:33536335   PMID:33563765   PMID:33845483   PMID:33961781   PMID:35307651   PMID:35748872   PMID:36297086   PMID:37249651   PMID:37689310  


Genomics

Comparative Map Data
ABCC10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38643,427,541 - 43,451,994 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl643,427,366 - 43,450,430 (+)EnsemblGRCh38hg38GRCh38
GRCh37643,395,279 - 43,418,165 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36643,507,467 - 43,526,141 (+)NCBINCBI36Build 36hg18NCBI36
Build 34643,507,466 - 43,526,141NCBI
Celera644,951,089 - 44,969,748 (+)NCBICelera
Cytogenetic Map6p21.1NCBI
HuRef643,113,792 - 43,136,645 (+)NCBIHuRef
CHM1_1643,398,442 - 43,421,307 (+)NCBICHM1_1
T2T-CHM13v2.0643,256,321 - 43,280,761 (+)NCBIT2T-CHM13v2.0
Abcc10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391746,614,146 - 46,638,954 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1746,614,147 - 46,639,278 (-)EnsemblGRCm39 Ensembl
GRCm381746,303,220 - 46,328,031 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1746,303,221 - 46,328,352 (-)EnsemblGRCm38mm10GRCm38
MGSCv371746,440,179 - 46,464,972 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361745,766,762 - 45,791,226 (-)NCBIMGSCv36mm8
Celera1749,737,824 - 49,762,288 (-)NCBICelera
Cytogenetic Map17CNCBI
cM Map1722.9NCBI
Abcc10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8922,154,811 - 22,174,743 (+)NCBIGRCr8
mRatBN7.2914,657,242 - 14,677,178 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl914,657,264 - 14,677,178 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx923,241,289 - 23,261,354 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0928,305,163 - 28,325,113 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0926,604,674 - 26,624,739 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0917,041,351 - 17,061,263 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl917,041,389 - 17,063,780 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0915,938,028 - 15,957,940 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4910,219,822 - 10,239,734 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1910,216,900 - 10,236,753 (+)NCBI
Celera912,404,578 - 12,424,492 (+)NCBICelera
Cytogenetic Map9q12NCBI
Abcc10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554379,280,050 - 9,297,314 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554379,278,977 - 9,297,618 (+)NCBIChiLan1.0ChiLan1.0
ABCC10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2557,927,609 - 57,950,569 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1653,797,394 - 53,820,386 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0643,019,469 - 43,042,441 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1644,311,237 - 44,333,616 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl644,311,237 - 44,333,610 (+)Ensemblpanpan1.1panPan2
ABCC10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11211,898,493 - 11,919,622 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1211,898,352 - 11,919,609 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1211,924,582 - 11,945,736 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01212,381,910 - 12,403,092 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1212,381,939 - 12,402,758 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11211,907,401 - 11,928,528 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01211,994,460 - 12,015,635 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01212,087,766 - 12,108,890 (+)NCBIUU_Cfam_GSD_1.0
Abcc10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494647,395,620 - 47,415,489 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647616,545,016 - 16,564,214 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647616,544,714 - 16,564,570 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCC10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl738,432,732 - 38,452,686 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1738,432,720 - 38,452,689 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2743,933,088 - 43,948,280 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ABCC10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11728,705,134 - 28,730,198 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1728,705,465 - 28,725,767 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604443,488,845 - 43,512,582 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abcc10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475416,173,504 - 16,195,333 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475416,177,849 - 16,195,753 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCC10
153 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1 copy number loss See cases [RCV000051011] Chr6:42368558..44590544 [GRCh38]
Chr6:42336296..44558281 [GRCh37]
Chr6:42444274..44666259 [NCBI36]
Chr6:6p21.1
pathogenic
GRCh38/hg38 6p21.1(chr6:42133625-44106194)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]|See cases [RCV000051899] Chr6:42133625..44106194 [GRCh38]
Chr6:42101363..44073931 [GRCh37]
Chr6:42209341..44181909 [NCBI36]
Chr6:6p21.1
pathogenic
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 copy number loss See cases [RCV000052181] Chr6:37777369..45653843 [GRCh38]
Chr6:37745145..45621580 [GRCh37]
Chr6:37853123..45729558 [NCBI36]
Chr6:6p21.2-21.1
pathogenic
GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1 copy number loss See cases [RCV000052182] Chr6:41638061..46512949 [GRCh38]
Chr6:41605799..46480686 [GRCh37]
Chr6:41713777..46588645 [NCBI36]
Chr6:6p21.1-12.3
pathogenic
NM_001198934.1(ABCC10):c.3801C>T (p.Thr1267=) single nucleotide variant Lung cancer [RCV000096878] Chr6:43447779 [GRCh38]
Chr6:43415517 [GRCh37]
Chr6:6p21.1
uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_001198934.2(ABCC10):c.2401C>T (p.Arg801Cys) single nucleotide variant not specified [RCV004307742] Chr6:43443144 [GRCh38]
Chr6:43410882 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2147A>G (p.Gln716Arg) single nucleotide variant not specified [RCV004308801] Chr6:43441881 [GRCh38]
Chr6:43409619 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.4271T>C (p.Ile1424Thr) single nucleotide variant not specified [RCV004317407] Chr6:43449489 [GRCh38]
Chr6:43417227 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2114A>G (p.Asn705Ser) single nucleotide variant not specified [RCV004325109] Chr6:43438782 [GRCh38]
Chr6:43406520 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3922G>A (p.Gly1308Ser) single nucleotide variant not specified [RCV004302641] Chr6:43447900 [GRCh38]
Chr6:43415638 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2246T>C (p.Leu749Pro) single nucleotide variant not specified [RCV004300407] Chr6:43442989 [GRCh38]
Chr6:43410727 [GRCh37]
Chr6:6p21.1
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_001198934.2(ABCC10):c.607C>G (p.Pro203Ala) single nucleotide variant not specified [RCV004303609] Chr6:43432587 [GRCh38]
Chr6:43400325 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2876A>G (p.Asn959Ser) single nucleotide variant not specified [RCV004317615] Chr6:43445160 [GRCh38]
Chr6:43412898 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3633G>C (p.Met1211Ile) single nucleotide variant not specified [RCV004299470] Chr6:43447336 [GRCh38]
Chr6:43415074 [GRCh37]
Chr6:6p21.1
uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_001198934.2(ABCC10):c.3715G>A (p.Gly1239Ser) single nucleotide variant not specified [RCV004284196] Chr6:43447693 [GRCh38]
Chr6:43415431 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1613T>A (p.Phe538Tyr) single nucleotide variant not specified [RCV004303012] Chr6:43435755 [GRCh38]
Chr6:43403493 [GRCh37]
Chr6:6p21.1
uncertain significance
NC_000006.11:g.(?_42162409)_(44154249_?)del deletion not provided [RCV003107587] Chr6:42162409..44154249 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1583T>C (p.Met528Thr) single nucleotide variant not specified [RCV004305200] Chr6:43434823 [GRCh38]
Chr6:43402561 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.4103T>C (p.Met1368Thr) single nucleotide variant not specified [RCV004302473] Chr6:43449024 [GRCh38]
Chr6:43416762 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2917A>T (p.Thr973Ser) single nucleotide variant not specified [RCV004300871] Chr6:43445201 [GRCh38]
Chr6:43412939 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3713C>T (p.Thr1238Ile) single nucleotide variant not provided [RCV000956382] Chr6:43447691 [GRCh38]
Chr6:43415429 [GRCh37]
Chr6:6p21.1
benign
NM_001198934.2(ABCC10):c.1675A>T (p.Asn559Tyr) single nucleotide variant not specified [RCV004313530] Chr6:43435817 [GRCh38]
Chr6:43403555 [GRCh37]
Chr6:6p21.1
uncertain significance
NC_000006.11:g.(?_42928506)_(43737486_?)del deletion not provided [RCV001384708] Chr6:42928506..43737486 [GRCh37]
Chr6:6p21.1
pathogenic
NC_000006.11:g.(?_41126341)_(43752536_?)del deletion Peroxisome biogenesis disorder [RCV003110948] Chr6:41126341..43752536 [GRCh37]
Chr6:6p21.1
pathogenic
NC_000006.11:g.(?_41126341)_(43737486_?)dup duplication PRPH2-related disorder [RCV003111022] Chr6:41126341..43737486 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1328G>A (p.Arg443His) single nucleotide variant not specified [RCV004302562] Chr6:43433308 [GRCh38]
Chr6:43401046 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1447G>T (p.Ala483Ser) single nucleotide variant not specified [RCV004322080] Chr6:43434687 [GRCh38]
Chr6:43402425 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.4202A>G (p.Lys1401Arg) single nucleotide variant not specified [RCV004235901] Chr6:43449203 [GRCh38]
Chr6:43416941 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1511C>T (p.Ala504Val) single nucleotide variant not specified [RCV004222067] Chr6:43434751 [GRCh38]
Chr6:43402489 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.1091C>A (p.Pro364Gln) single nucleotide variant not specified [RCV004202572] Chr6:43450600 [GRCh38]
Chr6:43418338 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3175G>A (p.Val1059Met) single nucleotide variant not specified [RCV004233708] Chr6:43445743 [GRCh38]
Chr6:43413481 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3002A>G (p.His1001Arg) single nucleotide variant not specified [RCV004077129] Chr6:43445286 [GRCh38]
Chr6:43413024 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1888G>C (p.Gly630Arg) single nucleotide variant not specified [RCV004223636] Chr6:43437946 [GRCh38]
Chr6:43405684 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2776A>C (p.Thr926Pro) single nucleotide variant not specified [RCV004090046] Chr6:43444874 [GRCh38]
Chr6:43412612 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1589A>G (p.His530Arg) single nucleotide variant not specified [RCV004103106] Chr6:43434829 [GRCh38]
Chr6:43402567 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2695C>T (p.Arg899Trp) single nucleotide variant not specified [RCV004216527] Chr6:43444793 [GRCh38]
Chr6:43412531 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3077A>G (p.Asn1026Ser) single nucleotide variant not specified [RCV004106667] Chr6:43445645 [GRCh38]
Chr6:43413383 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1340G>A (p.Ser447Asn) single nucleotide variant not specified [RCV004149188] Chr6:43433320 [GRCh38]
Chr6:43401058 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1822G>A (p.Asp608Asn) single nucleotide variant not specified [RCV004160444] Chr6:43436194 [GRCh38]
Chr6:43403932 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1408C>T (p.Arg470Trp) single nucleotide variant not specified [RCV004111756] Chr6:43434648 [GRCh38]
Chr6:43402386 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.728G>C (p.Gly243Ala) single nucleotide variant not specified [RCV004212062] Chr6:43450963 [GRCh38]
Chr6:43418701 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2888A>G (p.Asp963Gly) single nucleotide variant not specified [RCV004208530] Chr6:43445172 [GRCh38]
Chr6:43412910 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.523C>G (p.Leu175Val) single nucleotide variant not specified [RCV004118118] Chr6:43432503 [GRCh38]
Chr6:43400241 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.355C>G (p.Leu119Val) single nucleotide variant not specified [RCV004197303] Chr6:43432335 [GRCh38]
Chr6:43400073 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1042G>A (p.Val348Ile) single nucleotide variant not specified [RCV004220622] Chr6:43433022 [GRCh38]
Chr6:43400760 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2154G>T (p.Glu718Asp) single nucleotide variant not specified [RCV004145553] Chr6:43441888 [GRCh38]
Chr6:43409626 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1497C>G (p.Ile499Met) single nucleotide variant not specified [RCV004110877] Chr6:43434737 [GRCh38]
Chr6:43402475 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.595C>G (p.Leu199Val) single nucleotide variant not specified [RCV004190745] Chr6:43451096 [GRCh38]
Chr6:43418834 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.665C>T (p.Ser222Leu) single nucleotide variant not specified [RCV004230124] Chr6:43432645 [GRCh38]
Chr6:43400383 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1726G>A (p.Asp576Asn) single nucleotide variant not specified [RCV004100485] Chr6:43435868 [GRCh38]
Chr6:43403606 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1156A>C (p.Thr386Pro) single nucleotide variant not specified [RCV004134919] Chr6:43433136 [GRCh38]
Chr6:43400874 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.583C>A (p.Arg195Ser) single nucleotide variant not specified [RCV004097035] Chr6:43451108 [GRCh38]
Chr6:43418846 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.392G>A (p.Arg131Gln) single nucleotide variant not specified [RCV004098321] Chr6:43432372 [GRCh38]
Chr6:43400110 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2140G>A (p.Gly714Arg) single nucleotide variant not specified [RCV004096519] Chr6:43441874 [GRCh38]
Chr6:43409612 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1745C>T (p.Pro582Leu) single nucleotide variant not specified [RCV004170412] Chr6:43435887 [GRCh38]
Chr6:43403625 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.389G>A (p.Arg130His) single nucleotide variant not specified [RCV004148548] Chr6:43451967 [GRCh38]
Chr6:43419705 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.887G>A (p.Arg296Gln) single nucleotide variant not specified [RCV004187892] Chr6:43450804 [GRCh38]
Chr6:43418542 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.854A>G (p.Tyr285Cys) single nucleotide variant not specified [RCV004121705] Chr6:43432834 [GRCh38]
Chr6:43400572 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3229A>G (p.Met1077Val) single nucleotide variant not specified [RCV004069711] Chr6:43445797 [GRCh38]
Chr6:43413535 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3368C>T (p.Thr1123Ile) single nucleotide variant not specified [RCV004072301] Chr6:43445936 [GRCh38]
Chr6:43413674 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.854G>T (p.Gly285Val) single nucleotide variant not specified [RCV004093561] Chr6:43450837 [GRCh38]
Chr6:43418575 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3281G>T (p.Arg1094Leu) single nucleotide variant not specified [RCV004149998] Chr6:43445849 [GRCh38]
Chr6:43413587 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1352T>C (p.Met451Thr) single nucleotide variant not specified [RCV004116173] Chr6:43433332 [GRCh38]
Chr6:43401070 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1288G>C (p.Ala430Pro) single nucleotide variant not specified [RCV004238650] Chr6:43433268 [GRCh38]
Chr6:43401006 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.1039C>G (p.Pro347Ala) single nucleotide variant not specified [RCV004105577] Chr6:43450652 [GRCh38]
Chr6:43418390 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2485T>C (p.Ser829Pro) single nucleotide variant not specified [RCV004192472] Chr6:43444001 [GRCh38]
Chr6:43411739 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2539C>A (p.Leu847Met) single nucleotide variant not specified [RCV004131946] Chr6:43444203 [GRCh38]
Chr6:43411941 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.599C>T (p.Ala200Val) single nucleotide variant not specified [RCV004175999] Chr6:43432579 [GRCh38]
Chr6:43400317 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.4409C>T (p.Pro1470Leu) single nucleotide variant not specified [RCV004130342] Chr6:43450021 [GRCh38]
Chr6:43417759 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.281G>T (p.Gly94Val) single nucleotide variant not specified [RCV004096224] Chr6:43432261 [GRCh38]
Chr6:43399999 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.4264C>G (p.Gln1422Glu) single nucleotide variant not specified [RCV004936758] Chr6:43449482 [GRCh38]
Chr6:43417220 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3089C>T (p.Ser1030Phe) single nucleotide variant not specified [RCV004223149] Chr6:43445657 [GRCh38]
Chr6:43413395 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1640T>C (p.Leu547Pro) single nucleotide variant not specified [RCV004329998] Chr6:43435782 [GRCh38]
Chr6:43403520 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1851C>A (p.Phe617Leu) single nucleotide variant not specified [RCV004936832] Chr6:43436223 [GRCh38]
Chr6:43403961 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3970G>T (p.Ala1324Ser) single nucleotide variant not specified [RCV004936989] Chr6:43448891 [GRCh38]
Chr6:43416629 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3598G>C (p.Gly1200Arg) single nucleotide variant not specified [RCV004257491] Chr6:43447301 [GRCh38]
Chr6:43415039 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3925G>A (p.Val1309Met) single nucleotide variant not specified [RCV004249023] Chr6:43447903 [GRCh38]
Chr6:43415641 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1168C>G (p.Arg390Gly) single nucleotide variant not specified [RCV004261821] Chr6:43433148 [GRCh38]
Chr6:43400886 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2372C>G (p.Ala791Gly) single nucleotide variant not specified [RCV004254679] Chr6:43443115 [GRCh38]
Chr6:43410853 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2366A>G (p.Glu789Gly) single nucleotide variant not specified [RCV004254678] Chr6:43443109 [GRCh38]
Chr6:43410847 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2411G>A (p.Arg804Gln) single nucleotide variant not specified [RCV004249655] Chr6:43443154 [GRCh38]
Chr6:43410892 [GRCh37]
Chr6:6p21.1
likely benign
NM_001198934.2(ABCC10):c.3175G>T (p.Val1059Leu) single nucleotide variant not specified [RCV004296926] Chr6:43445743 [GRCh38]
Chr6:43413481 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3185C>G (p.Ser1062Cys) single nucleotide variant not specified [RCV004296927] Chr6:43445753 [GRCh38]
Chr6:43413491 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3170T>A (p.Leu1057Gln) single nucleotide variant not specified [RCV004318906] Chr6:43445738 [GRCh38]
Chr6:43413476 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.1045T>C (p.Tyr349His) single nucleotide variant not specified [RCV004327820] Chr6:43450646 [GRCh38]
Chr6:43418384 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.199C>T (p.Arg67Cys) single nucleotide variant not specified [RCV004342283] Chr6:43432179 [GRCh38]
Chr6:43399917 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2484G>C (p.Glu828Asp) single nucleotide variant not specified [RCV004353320] Chr6:43444000 [GRCh38]
Chr6:43411738 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1169G>A (p.Arg390Gln) single nucleotide variant not specified [RCV004351913] Chr6:43433149 [GRCh38]
Chr6:43400887 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.4012C>T (p.Arg1338Trp) single nucleotide variant not specified [RCV004336995] Chr6:43448933 [GRCh38]
Chr6:43416671 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.4007C>G (p.Thr1336Ser) single nucleotide variant not specified [RCV004335180] Chr6:43448928 [GRCh38]
Chr6:43416666 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2255C>T (p.Pro752Leu) single nucleotide variant not specified [RCV004337577] Chr6:43442998 [GRCh38]
Chr6:43410736 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1994G>C (p.Gly665Ala) single nucleotide variant not specified [RCV004336514] Chr6:43438662 [GRCh38]
Chr6:43406400 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1544T>C (p.Val515Ala) single nucleotide variant not specified [RCV004348899] Chr6:43434784 [GRCh38]
Chr6:43402522 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1512G>A (p.Ala504=) single nucleotide variant not provided [RCV003431885] Chr6:43434752 [GRCh38]
Chr6:43402490 [GRCh37]
Chr6:6p21.1
likely benign
NM_001198934.2(ABCC10):c.2379G>A (p.Ala793=) single nucleotide variant not provided [RCV003431886] Chr6:43443122 [GRCh38]
Chr6:43410860 [GRCh37]
Chr6:6p21.1
likely benign
NM_023932.4(DLK2):c.1036G>T (p.Ala346Ser) single nucleotide variant not provided [RCV003428865] Chr6:43450655 [GRCh38]
Chr6:43418393 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.782A>T (p.Asp261Val) single nucleotide variant not provided [RCV003428866] Chr6:43450909 [GRCh38]
Chr6:43418647 [GRCh37]
Chr6:6p21.1
likely benign
NM_001198934.2(ABCC10):c.2682C>G (p.Leu894=) single nucleotide variant not provided [RCV003431887] Chr6:43444346 [GRCh38]
Chr6:43412084 [GRCh37]
Chr6:6p21.1
likely benign
NM_001198934.2(ABCC10):c.277G>T (p.Ala93Ser) single nucleotide variant not specified [RCV004424678] Chr6:43432257 [GRCh38]
Chr6:43399995 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2793G>C (p.Met931Ile) single nucleotide variant not specified [RCV004424682] Chr6:43444891 [GRCh38]
Chr6:43412629 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2920A>G (p.Ile974Val) single nucleotide variant not specified [RCV004424695] Chr6:43445204 [GRCh38]
Chr6:43412942 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3277C>T (p.Arg1093Trp) single nucleotide variant not specified [RCV004424723] Chr6:43445845 [GRCh38]
Chr6:43413583 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3445C>A (p.Gln1149Lys) single nucleotide variant not specified [RCV004424742] Chr6:43446347 [GRCh38]
Chr6:43414085 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3493G>A (p.Ala1165Thr) single nucleotide variant not specified [RCV004424744] Chr6:43446395 [GRCh38]
Chr6:43414133 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3596C>T (p.Ser1199Leu) single nucleotide variant not specified [RCV004424751] Chr6:43447299 [GRCh38]
Chr6:43415037 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.688G>C (p.Ala230Pro) single nucleotide variant not specified [RCV004424822] Chr6:43432668 [GRCh38]
Chr6:43400406 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.880G>A (p.Val294Met) single nucleotide variant not specified [RCV004424831] Chr6:43432860 [GRCh38]
Chr6:43400598 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.828G>A (p.Gly276=) single nucleotide variant not provided [RCV004546343] Chr6:43450863 [GRCh38]
Chr6:43418601 [GRCh37]
Chr6:6p21.1
likely benign
NM_001198934.2(ABCC10):c.341G>A (p.Ser114Asn) single nucleotide variant not specified [RCV004424736] Chr6:43432321 [GRCh38]
Chr6:43400059 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3908G>A (p.Arg1303Gln) single nucleotide variant not specified [RCV004424771] Chr6:43447886 [GRCh38]
Chr6:43415624 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.4243A>G (p.Lys1415Glu) single nucleotide variant not specified [RCV004424795] Chr6:43449461 [GRCh38]
Chr6:43417199 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3353G>A (p.Arg1118Gln) single nucleotide variant not specified [RCV004424731] Chr6:43445921 [GRCh38]
Chr6:43413659 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3704A>G (p.Gln1235Arg) single nucleotide variant not specified [RCV004424767] Chr6:43447407 [GRCh38]
Chr6:43415145 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2537G>A (p.Gly846Glu) single nucleotide variant not specified [RCV004424664] Chr6:43444201 [GRCh38]
Chr6:43411939 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2602G>A (p.Val868Met) single nucleotide variant not specified [RCV004424670] Chr6:43444266 [GRCh38]
Chr6:43412004 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.162G>C (p.Arg54Ser) single nucleotide variant not specified [RCV004424602] Chr6:43432142 [GRCh38]
Chr6:43399880 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2143G>T (p.Asp715Tyr) single nucleotide variant not specified [RCV004424623] Chr6:43441877 [GRCh38]
Chr6:43409615 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3646G>A (p.Glu1216Lys) single nucleotide variant not specified [RCV004424765] Chr6:43447349 [GRCh38]
Chr6:43415087 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.476C>T (p.Thr159Met) single nucleotide variant not specified [RCV004376213] Chr6:43451215 [GRCh38]
Chr6:43418953 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.851C>A (p.Ala284Asp) single nucleotide variant not specified [RCV004376217] Chr6:43450840 [GRCh38]
Chr6:43418578 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.500T>C (p.Val167Ala) single nucleotide variant not specified [RCV004376214] Chr6:43451191 [GRCh38]
Chr6:43418929 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.509G>A (p.Arg170His) single nucleotide variant not specified [RCV004376215] Chr6:43451182 [GRCh38]
Chr6:43418920 [GRCh37]
Chr6:6p21.1
likely benign
NM_023932.4(DLK2):c.569T>G (p.Leu190Arg) single nucleotide variant not specified [RCV004376216] Chr6:43451122 [GRCh38]
Chr6:43418860 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2557A>C (p.Thr853Pro) single nucleotide variant not specified [RCV004640905] Chr6:43444221 [GRCh38]
Chr6:43411959 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3932C>T (p.Thr1311Ile) single nucleotide variant not specified [RCV004643322] Chr6:43447910 [GRCh38]
Chr6:43415648 [GRCh37]
Chr6:6p21.1
likely benign
NM_001198934.2(ABCC10):c.784G>T (p.Val262Phe) single nucleotide variant not specified [RCV004643399] Chr6:43432764 [GRCh38]
Chr6:43400502 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.718A>C (p.Ser240Arg) single nucleotide variant not specified [RCV004616605] Chr6:43450973 [GRCh38]
Chr6:43418711 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3841C>T (p.Arg1281Cys) single nucleotide variant not specified [RCV004640945] Chr6:43447819 [GRCh38]
Chr6:43415557 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3355G>A (p.Ala1119Thr) single nucleotide variant not specified [RCV004643591] Chr6:43445923 [GRCh38]
Chr6:43413661 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.361G>T (p.Val121Leu) single nucleotide variant not specified [RCV004641076] Chr6:43432341 [GRCh38]
Chr6:43400079 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3970G>C (p.Ala1324Pro) single nucleotide variant not specified [RCV004643176] Chr6:43448891 [GRCh38]
Chr6:43416629 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3502G>C (p.Gly1168Arg) single nucleotide variant not specified [RCV004643251] Chr6:43446404 [GRCh38]
Chr6:43414142 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1675A>G (p.Asn559Asp) single nucleotide variant not specified [RCV004638179] Chr6:43435817 [GRCh38]
Chr6:43403555 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3730G>T (p.Gly1244Trp) single nucleotide variant not specified [RCV004640925] Chr6:43447708 [GRCh38]
Chr6:43415446 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3973A>C (p.Ile1325Leu) single nucleotide variant not specified [RCV004643480] Chr6:43448894 [GRCh38]
Chr6:43416632 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3067C>T (p.Arg1023Trp) single nucleotide variant not specified [RCV004643525] Chr6:43445635 [GRCh38]
Chr6:43413373 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1501T>C (p.Tyr501His) single nucleotide variant not specified [RCV004936916] Chr6:43434741 [GRCh38]
Chr6:43402479 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1126C>T (p.Pro376Ser) single nucleotide variant not specified [RCV004936664] Chr6:43433106 [GRCh38]
Chr6:43400844 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2780G>C (p.Ser927Thr) single nucleotide variant not specified [RCV004938631] Chr6:43444878 [GRCh38]
Chr6:43412616 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1668G>T (p.Trp556Cys) single nucleotide variant not specified [RCV004937071] Chr6:43435810 [GRCh38]
Chr6:43403548 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.886A>T (p.Thr296Ser) single nucleotide variant not specified [RCV004942245] Chr6:43432866 [GRCh38]
Chr6:43400604 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1490G>A (p.Arg497Gln) single nucleotide variant not specified [RCV004942400] Chr6:43434730 [GRCh38]
Chr6:43402468 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.677A>T (p.Tyr226Phe) single nucleotide variant not specified [RCV004942382] Chr6:43432657 [GRCh38]
Chr6:43400395 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.730C>T (p.Pro244Ser) single nucleotide variant not specified [RCV004942544] Chr6:43432710 [GRCh38]
Chr6:43400448 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.3751G>A (p.Val1251Met) single nucleotide variant not specified [RCV004942389] Chr6:43447729 [GRCh38]
Chr6:43415467 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.2638G>A (p.Val880Met) single nucleotide variant not specified [RCV004942152] Chr6:43444302 [GRCh38]
Chr6:43412040 [GRCh37]
Chr6:6p21.1
likely benign
NM_001198934.2(ABCC10):c.1541C>T (p.Pro514Leu) single nucleotide variant not specified [RCV004942374] Chr6:43434781 [GRCh38]
Chr6:43402519 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.1706A>C (p.Asp569Ala) single nucleotide variant not specified [RCV004942432] Chr6:43435848 [GRCh38]
Chr6:43403586 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001198934.2(ABCC10):c.4145T>C (p.Leu1382Ser) single nucleotide variant not specified [RCV004942333] Chr6:43449146 [GRCh38]
Chr6:43416884 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.655C>T (p.Arg219Cys) single nucleotide variant not specified [RCV004906280] Chr6:43451036 [GRCh38]
Chr6:43418774 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.619C>T (p.Arg207Cys) single nucleotide variant not specified [RCV004906279] Chr6:43451072 [GRCh38]
Chr6:43418810 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.877G>A (p.Glu293Lys) single nucleotide variant not specified [RCV004906278] Chr6:43450814 [GRCh38]
Chr6:43418552 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.886C>T (p.Arg296Trp) single nucleotide variant not specified [RCV004906277] Chr6:43450805 [GRCh38]
Chr6:43418543 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_023932.4(DLK2):c.665A>G (p.Gln222Arg) single nucleotide variant not specified [RCV004906276] Chr6:43451026 [GRCh38]
Chr6:43418764 [GRCh37]
Chr6:6p21.1
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2747
Count of miRNA genes:935
Interacting mature miRNAs:1146
Transcripts:ENST00000244533, ENST00000372512, ENST00000372515, ENST00000372530, ENST00000437104, ENST00000443426, ENST00000463024, ENST00000469856, ENST00000502549, ENST00000505344
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597179032GWAS1275106_Hprotein delta homolog 2 measurement QTL GWAS1275106 (human)9e-33protein delta homolog 2 measurement64344036743440368Human
597110774GWAS1206848_Hmathematical ability QTL GWAS1206848 (human)8e-10mathematical ability64344005943440060Human
597033492GWAS1129566_Hblood protein measurement QTL GWAS1129566 (human)8e-08blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)64344512743445128Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
597123155GWAS1219229_Htoll-like receptor 2 measurement QTL GWAS1219229 (human)3e-16toll-like receptor 2 measurement64344036743440368Human
597073681GWAS1169755_Hcoronary artery disease QTL GWAS1169755 (human)0.000001coronary artery disease64342858743428588Human
597206272GWAS1302346_Hmathematical ability QTL GWAS1302346 (human)6e-13mathematical ability64344005943440060Human
597272065GWAS1368139_HBMI-adjusted hip circumference QTL GWAS1368139 (human)6e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)64344649643446497Human
597220946GWAS1317020_Hage-related hearing impairment QTL GWAS1317020 (human)3e-11age-related hearing impairment64343336743433368Human
597237059GWAS1333133_HVertigo QTL GWAS1333133 (human)0.000003Vertigo64344072843440729Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
597223701GWAS1319775_Hcystatin C measurement QTL GWAS1319775 (human)2e-09cystatin C measurementblood cystatin C level (CMO:0002777)64345079043450791Human

Markers in Region
ABCC10_2608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,417,602 - 43,418,361UniSTSGRCh37
Build 36643,525,580 - 43,526,339RGDNCBI36
Celera644,969,187 - 44,969,946RGD
HuRef643,136,084 - 43,136,834UniSTS
MARC_12101-12102:1004643664:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,414,094 - 43,415,075UniSTSGRCh37
Build 36643,522,072 - 43,523,053RGDNCBI36
Celera644,965,679 - 44,966,660RGD
HuRef643,132,576 - 43,133,557UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2252 4973 1726 2351 6 624 1951 465 2269 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001198934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007059383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007059384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK000002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL122095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX405792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY032599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000244533   ⟹   ENSP00000244533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,431,751 - 43,450,425 (+)Ensembl
Ensembl Acc Id: ENST00000372512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,445,100 - 43,447,437 (+)Ensembl
Ensembl Acc Id: ENST00000372515   ⟹   ENSP00000361593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,427,366 - 43,450,430 (+)Ensembl
Ensembl Acc Id: ENST00000372530   ⟹   ENSP00000361608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,427,541 - 43,450,427 (+)Ensembl
Ensembl Acc Id: ENST00000437104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,446,855 - 43,447,862 (+)Ensembl
Ensembl Acc Id: ENST00000443426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,427,856 - 43,435,156 (+)Ensembl
Ensembl Acc Id: ENST00000463024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,435,798 - 43,450,426 (+)Ensembl
Ensembl Acc Id: ENST00000469856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,438,711 - 43,442,061 (+)Ensembl
Ensembl Acc Id: ENST00000502549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,427,548 - 43,432,176 (+)Ensembl
Ensembl Acc Id: ENST00000505344   ⟹   ENSP00000422699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,447,993 - 43,450,422 (+)Ensembl
RefSeq Acc Id: NM_001198934   ⟹   NP_001185863
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,541 - 43,450,427 (+)NCBI
GRCh37643,395,282 - 43,418,163 (+)NCBI
HuRef643,113,792 - 43,136,645 (+)ENTREZGENE
CHM1_1643,398,442 - 43,421,307 (+)NCBI
T2T-CHM13v2.0643,256,324 - 43,279,194 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350518   ⟹   NP_001337447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,541 - 43,450,427 (+)NCBI
T2T-CHM13v2.0643,256,324 - 43,279,194 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033450   ⟹   NP_258261
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,431,751 - 43,450,427 (+)NCBI
GRCh37643,395,282 - 43,418,163 (+)NCBI
Build 36643,507,467 - 43,526,141 (+)NCBI Archive
HuRef643,113,792 - 43,136,645 (+)ENTREZGENE
CHM1_1643,402,633 - 43,421,307 (+)NCBI
T2T-CHM13v2.0643,260,532 - 43,279,194 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146762
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,863 - 43,450,427 (+)NCBI
T2T-CHM13v2.0643,256,646 - 43,279,194 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011514974   ⟹   XP_011513276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,863 - 43,450,427 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011514985   ⟹   XP_011513287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,438,020 - 43,450,427 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011514986   ⟹   XP_011513288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,437,983 - 43,450,427 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047419494   ⟹   XP_047275450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,541 - 43,450,427 (+)NCBI
RefSeq Acc Id: XM_047419495   ⟹   XP_047275451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,541 - 43,450,427 (+)NCBI
RefSeq Acc Id: XM_047419496   ⟹   XP_047275452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,863 - 43,451,983 (+)NCBI
RefSeq Acc Id: XM_047419497   ⟹   XP_047275453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,863 - 43,451,983 (+)NCBI
RefSeq Acc Id: XM_047419498   ⟹   XP_047275454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,863 - 43,449,513 (+)NCBI
RefSeq Acc Id: XM_047419499   ⟹   XP_047275455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,863 - 43,450,427 (+)NCBI
RefSeq Acc Id: XM_047419500   ⟹   XP_047275456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,863 - 43,446,900 (+)NCBI
RefSeq Acc Id: XM_047419501   ⟹   XP_047275457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,863 - 43,447,598 (+)NCBI
RefSeq Acc Id: XM_047419502   ⟹   XP_047275458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,863 - 43,450,427 (+)NCBI
RefSeq Acc Id: XM_054356700   ⟹   XP_054212675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,256,542 - 43,279,194 (+)NCBI
RefSeq Acc Id: XM_054356701   ⟹   XP_054212676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,256,321 - 43,279,194 (+)NCBI
RefSeq Acc Id: XM_054356702   ⟹   XP_054212677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,256,324 - 43,279,194 (+)NCBI
RefSeq Acc Id: XM_054356703   ⟹   XP_054212678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,256,540 - 43,280,750 (+)NCBI
RefSeq Acc Id: XM_054356704   ⟹   XP_054212679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,256,540 - 43,280,750 (+)NCBI
RefSeq Acc Id: XM_054356705   ⟹   XP_054212680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,256,539 - 43,278,280 (+)NCBI
RefSeq Acc Id: XM_054356706   ⟹   XP_054212681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,256,639 - 43,279,194 (+)NCBI
RefSeq Acc Id: XM_054356707   ⟹   XP_054212682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,256,538 - 43,275,668 (+)NCBI
RefSeq Acc Id: XM_054356708   ⟹   XP_054212683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,256,539 - 43,276,365 (+)NCBI
RefSeq Acc Id: XM_054356709   ⟹   XP_054212684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,256,628 - 43,279,194 (+)NCBI
RefSeq Acc Id: XM_054356710   ⟹   XP_054212685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,266,786 - 43,279,194 (+)NCBI
RefSeq Acc Id: XM_054356711   ⟹   XP_054212686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,266,749 - 43,279,194 (+)NCBI
RefSeq Acc Id: XR_007059383
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,863 - 43,451,994 (+)NCBI
RefSeq Acc Id: XR_007059384
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,427,863 - 43,444,186 (+)NCBI
RefSeq Acc Id: XR_008487503
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,256,542 - 43,280,761 (+)NCBI
RefSeq Acc Id: XR_008487504
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0643,256,538 - 43,272,953 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001185863 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337447 (Get FASTA)   NCBI Sequence Viewer  
  NP_258261 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513276 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513287 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513288 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275450 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275451 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275452 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275453 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275454 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275455 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275456 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275457 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275458 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212675 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212676 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212677 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212678 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212679 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212680 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212681 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212682 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212683 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212684 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212685 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212686 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH24103 (Get FASTA)   NCBI Sequence Viewer  
  AAK39642 (Get FASTA)   NCBI Sequence Viewer  
  BAA92227 (Get FASTA)   NCBI Sequence Viewer  
  BAB15736 (Get FASTA)   NCBI Sequence Viewer  
  CAB59263 (Get FASTA)   NCBI Sequence Viewer  
  CAB63742 (Get FASTA)   NCBI Sequence Viewer  
  CAD34899 (Get FASTA)   NCBI Sequence Viewer  
  EAX04180 (Get FASTA)   NCBI Sequence Viewer  
  EAX04181 (Get FASTA)   NCBI Sequence Viewer  
  EAX04182 (Get FASTA)   NCBI Sequence Viewer  
  EAX04183 (Get FASTA)   NCBI Sequence Viewer  
  EAX04184 (Get FASTA)   NCBI Sequence Viewer  
  EAX04185 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000244533
  ENSP00000244533.3
  ENSP00000361593.4
  ENSP00000361608
  ENSP00000361608.4
  ENSP00000422699.1
GenBank Protein Q5T3U5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001185863   ⟸   NM_001198934
- Peptide Label: isoform MRP7
- UniProtKB: Q9UF48 (UniProtKB/Swiss-Prot),   Q9NXY3 (UniProtKB/Swiss-Prot),   Q9H7N2 (UniProtKB/Swiss-Prot),   Q8NHX7 (UniProtKB/Swiss-Prot),   Q5T3U5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_258261   ⟸   NM_033450
- Peptide Label: isoform MRP7A
- UniProtKB: Q5T3U5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513276   ⟸   XM_011514974
- Peptide Label: isoform X2
- UniProtKB: Q9UF48 (UniProtKB/Swiss-Prot),   Q9NXY3 (UniProtKB/Swiss-Prot),   Q9H7N2 (UniProtKB/Swiss-Prot),   Q8NHX7 (UniProtKB/Swiss-Prot),   Q5T3U5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513288   ⟸   XM_011514986
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011513287   ⟸   XM_011514985
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001337447   ⟸   NM_001350518
- Peptide Label: isoform 3
- Sequence:
Ensembl Acc Id: ENSP00000361593   ⟸   ENST00000372515
Ensembl Acc Id: ENSP00000361608   ⟸   ENST00000372530
Ensembl Acc Id: ENSP00000422699   ⟸   ENST00000505344
Ensembl Acc Id: ENSP00000244533   ⟸   ENST00000244533
RefSeq Acc Id: XP_047275450   ⟸   XM_047419494
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047275451   ⟸   XM_047419495
- Peptide Label: isoform X2
- UniProtKB: Q9UF48 (UniProtKB/Swiss-Prot),   Q9NXY3 (UniProtKB/Swiss-Prot),   Q9H7N2 (UniProtKB/Swiss-Prot),   Q8NHX7 (UniProtKB/Swiss-Prot),   Q5T3U5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047275452   ⟸   XM_047419496
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047275453   ⟸   XM_047419497
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047275455   ⟸   XM_047419499
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047275458   ⟸   XM_047419502
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047275454   ⟸   XM_047419498
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047275457   ⟸   XM_047419501
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047275456   ⟸   XM_047419500
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054212676   ⟸   XM_054356701
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054212677   ⟸   XM_054356702
- Peptide Label: isoform X2
- UniProtKB: Q9UF48 (UniProtKB/Swiss-Prot),   Q9NXY3 (UniProtKB/Swiss-Prot),   Q9H7N2 (UniProtKB/Swiss-Prot),   Q8NHX7 (UniProtKB/Swiss-Prot),   Q5T3U5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054212682   ⟸   XM_054356707
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054212680   ⟸   XM_054356705
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054212683   ⟸   XM_054356708
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054212678   ⟸   XM_054356703
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054212679   ⟸   XM_054356704
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054212675   ⟸   XM_054356700
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054212684   ⟸   XM_054356709
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054212681   ⟸   XM_054356706
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054212686   ⟸   XM_054356711
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054212685   ⟸   XM_054356710
- Peptide Label: isoform X5
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5T3U5-F1-model_v2 AlphaFold Q5T3U5 1-1492 view protein structure

Promoters
RGD ID:6803730
Promoter ID:HG_KWN:53638
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000372530,   OTTHUMT00000040605
Position:
Human AssemblyChrPosition (strand)Source
Build 36643,503,176 - 43,503,687 (+)MPROMDB
RGD ID:6803733
Promoter ID:HG_KWN:53640
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:UC010JYO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36643,511,376 - 43,511,876 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:52 AgrOrtholog
COSMIC ABCC10 COSMIC
Ensembl Genes ENSG00000124574 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000244533 ENTREZGENE
  ENST00000244533.7 UniProtKB/Swiss-Prot
  ENST00000372515.8 UniProtKB/TrEMBL
  ENST00000372530 ENTREZGENE
  ENST00000372530.9 UniProtKB/Swiss-Prot
  ENST00000505344.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000124574 GTEx
HGNC ID HGNC:52 ENTREZGENE
Human Proteome Map ABCC10 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot
  ABC1_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:89845 UniProtKB/Swiss-Prot
NCBI Gene ABCC10 ENTREZGENE
OMIM 612509 OMIM
PANTHER ATP-BINDING CASSETTE SUB-FAMILY C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-BINDING CASSETTE SUB-FAMILY C MEMBER 10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC_membrane UniProtKB/Swiss-Prot
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24392 PharmGKB
PROSITE ABC_TM1F UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot
SMART AAA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90123 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6R9B3_HUMAN UniProtKB/TrEMBL
  H0Y904_HUMAN UniProtKB/TrEMBL
  MRP7_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8NHX7 ENTREZGENE
  Q9H7N2 ENTREZGENE
  Q9NXY3 ENTREZGENE
  Q9UF48 ENTREZGENE
UniProt Secondary Q8NHX7 UniProtKB/Swiss-Prot
  Q9H7N2 UniProtKB/Swiss-Prot
  Q9NXY3 UniProtKB/Swiss-Prot
  Q9UF48 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ABCC10  ATP binding cassette subfamily C member 10    ATP-binding cassette, sub-family C (CFTR/MRP), member 10  Symbol and/or name change 5135510 APPROVED