RHAG (Rh associated glycoprotein) - Rat Genome Database

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Gene: RHAG (Rh associated glycoprotein) Homo sapiens
Analyze
Symbol: RHAG
Name: Rh associated glycoprotein
RGD ID: 731598
HGNC Page HGNC:10006
Description: Enables several functions, including ankyrin binding activity; carbon dioxide transmembrane transporter activity; and channel activity. Involved in several processes, including ammonium transmembrane transport; carbon dioxide transmembrane transport; and methylammonium transmembrane transport. Located in plasma membrane. Part of ankyrin-1 complex. Implicated in Rh deficiency syndrome; hemolytic anemia; and overhydrated hereditary stomatocytosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ammonium transporter Rh type A; CD241; erythrocyte membrane glycoprotein Rh50; erythrocyte plasma membrane 50 kDa glycoprotein; mutant Rh associated glycoprotein; OHS; OHST; Rh 50 glycoprotein; rh family type A glycoprotein; rh type A glycoprotein; Rh-associated glycoprotein; RH2; Rh50; RH50A; Rh50GP; Rhesus associated polypeptide, 50-KD; rhesus blood group family type A glycoprotein; rhesus blood group-associated a glycoprotein; rhesus blood group-associated ammonia channel; Rhesus blood group-associated glycoprotein; RHNR; SLC42A1; truncated Rh-associated glycoprotein; truncated RhAG glycoprotein
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
GRCh38649,605,175 - 49,636,839 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl649,605,175 - 49,636,839 (-)EnsemblGRCh38hg38GRCh38
GRCh37649,572,888 - 49,604,552 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36649,680,847 - 49,712,546 (-)NCBINCBI36Build 36hg18NCBI36
Build 34649,680,850 - 49,712,511NCBI
Celera651,129,020 - 51,160,725 (-)NCBICelera
Cytogenetic Map6p12.3ENTREZGENE
HuRef649,302,584 - 49,334,437 (-)NCBIHuRef
CHM1_1649,575,821 - 49,607,510 (-)NCBICHM1_1
T2T-CHM13v2.0649,447,195 - 49,478,851 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
ankyrin-1 complex  (IDA)
membrane  (IDA,IEA)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene. Huang CH, etal., Am J Hematol. 1999 Sep;62(1):25-32.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1417776   PMID:3146980   PMID:8563755   PMID:9442063   PMID:9454778   PMID:9473510   PMID:9479501   PMID:9716608   PMID:9746795   PMID:9915949   PMID:10862620   PMID:11062476  
PMID:11861637   PMID:12130520   PMID:12204676   PMID:12393442   PMID:12477932   PMID:12531814   PMID:12719424   PMID:12846905   PMID:14966114   PMID:15572441   PMID:15856280   PMID:15929723  
PMID:16227429   PMID:16378686   PMID:16563829   PMID:16564724   PMID:16574458   PMID:16580865   PMID:16866382   PMID:17712059   PMID:18931342   PMID:19273840   PMID:21682734   PMID:21849667  
PMID:21873635   PMID:21883272   PMID:22012326   PMID:23417980   PMID:24077989   PMID:24378760   PMID:24623722   PMID:25296744   PMID:26175207   PMID:26354748   PMID:27247322   PMID:28063760  
PMID:29266289   PMID:29508504   PMID:29559519   PMID:30990901   PMID:31032541   PMID:32296183   PMID:32378229   PMID:32705675   PMID:35835865   PMID:38711255  


Genomics

Comparative Map Data
RHAG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38649,605,175 - 49,636,839 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl649,605,175 - 49,636,839 (-)EnsemblGRCh38hg38GRCh38
GRCh37649,572,888 - 49,604,552 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36649,680,847 - 49,712,546 (-)NCBINCBI36Build 36hg18NCBI36
Build 34649,680,850 - 49,712,511NCBI
Celera651,129,020 - 51,160,725 (-)NCBICelera
Cytogenetic Map6p12.3ENTREZGENE
HuRef649,302,584 - 49,334,437 (-)NCBIHuRef
CHM1_1649,575,821 - 49,607,510 (-)NCBICHM1_1
T2T-CHM13v2.0649,447,195 - 49,478,851 (-)NCBIT2T-CHM13v2.0
Rhag
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391741,121,990 - 41,154,985 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1741,122,017 - 41,151,645 (+)EnsemblGRCm39 Ensembl
GRCm381740,811,099 - 40,844,094 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1740,811,126 - 40,840,754 (+)EnsemblGRCm38mm10GRCm38
MGSCv371740,948,098 - 40,977,703 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361740,274,633 - 40,304,238 (+)NCBIMGSCv36mm8
Celera1744,216,540 - 44,246,099 (+)NCBICelera
Cytogenetic Map17B2NCBI
cM Map1719.54NCBI
Rhag
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8927,566,349 - 27,594,390 (-)NCBIGRCr8
mRatBN7.2920,069,800 - 20,097,836 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl920,069,807 - 20,097,836 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx928,641,038 - 28,669,067 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0933,715,588 - 33,743,623 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0932,026,353 - 32,054,431 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0923,465,190 - 23,493,081 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl923,465,197 - 23,493,081 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0922,323,155 - 22,351,046 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4915,940,864 - 15,968,319 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1916,206,790 - 16,234,831 (-)NCBI
Celera917,746,824 - 17,774,869 (-)NCBICelera
Cytogenetic Map9q13NCBI
Rhag
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554118,335,230 - 8,353,465 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554118,335,223 - 8,354,430 (+)NCBIChiLan1.0ChiLan1.0
RHAG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2564,089,124 - 64,120,783 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1659,953,964 - 59,985,644 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0649,174,973 - 49,206,667 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1650,436,504 - 50,468,203 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl650,436,307 - 50,468,250 (-)Ensemblpanpan1.1panPan2
RHAG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11217,433,660 - 17,454,323 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1217,433,670 - 17,454,311 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1217,333,447 - 17,354,099 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01217,929,429 - 17,950,114 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1217,929,439 - 17,950,091 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11217,449,489 - 17,469,874 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01217,554,969 - 17,575,628 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01217,684,421 - 17,705,041 (-)NCBIUU_Cfam_GSD_1.0
Rhag
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494652,851,930 - 52,885,730 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647611,081,652 - 11,107,211 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647611,081,631 - 11,106,636 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RHAG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl743,703,876 - 43,729,995 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1743,704,152 - 43,730,944 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2750,018,284 - 50,044,481 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RHAG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11722,779,382 - 22,809,771 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1722,779,751 - 22,809,192 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604449,565,602 - 49,600,316 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rhag
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479914,446,288 - 14,467,106 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479914,445,270 - 14,467,161 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RHAG
99 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000324.3(RHAG):c.1086del (p.Ala363fs) deletion Rh-null, regulator type [RCV000013933] Chr6:49607202 [GRCh38]
Chr6:49574915 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_000324.3(RHAG):c.157+1G>A single nucleotide variant RHAG-related disorder [RCV003415695]|Rh-null, regulator type [RCV000013936] Chr6:49636655 [GRCh38]
Chr6:49604368 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_000324.3(RHAG):c.946-1G>A single nucleotide variant Rh-null, regulator type [RCV000013937] Chr6:49611146 [GRCh38]
Chr6:49578859 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_000324.3(RHAG):c.1067+1G>A single nucleotide variant Rh deficiency syndrome [RCV003387721]|Rh-null, regulator type [RCV000013939] Chr6:49611023 [GRCh38]
Chr6:49578736 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_000324.3(RHAG):c.1068-26T>C single nucleotide variant not provided [RCV001508185] Chr6:49607246 [GRCh38]
Chr6:49574959 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.154_157delinsGA (p.Pro52fs) indel Rh-null, regulator type [RCV000013932] Chr6:49636656..49636659 [GRCh38]
Chr6:49604369..49604372 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_000324.3(RHAG):c.236G>A (p.Ser79Asn) single nucleotide variant Rh mod blood group phenotype [RCV000013934] Chr6:49619284 [GRCh38]
Chr6:49586997 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_000324.3(RHAG):c.836G>A (p.Gly279Glu) single nucleotide variant Overhydrated hereditary stomatocytosis [RCV004595881]|Rh-null, regulator type [RCV000013935] Chr6:49612506 [GRCh38]
Chr6:49580219 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_000324.3(RHAG):c.3G>T (p.Met1Ile) single nucleotide variant Rh mod blood group phenotype [RCV000013938] Chr6:49636810 [GRCh38]
Chr6:49604523 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_000324.3(RHAG):c.1139G>T (p.Gly380Val) single nucleotide variant Rh-null, regulator type [RCV000013941] Chr6:49606921 [GRCh38]
Chr6:49574634 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_000324.2(RHAG):c.541T>G (p.Phe181Val) single nucleotide variant Malignant melanoma [RCV000061453] Chr6:49615723 [GRCh38]
Chr6:49583436 [GRCh37]
Chr6:49691395 [NCBI36]
Chr6:6p12.3		 not provided
NM_000324.3(RHAG):c.182T>G (p.Ile61Arg) single nucleotide variant Overhydrated hereditary stomatocytosis [RCV000202426] Chr6:49619338 [GRCh38]
Chr6:49587051 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_000324.3(RHAG):c.194T>C (p.Phe65Ser) single nucleotide variant Overhydrated hereditary stomatocytosis [RCV000202428]|not provided [RCV001781607] Chr6:49619326 [GRCh38]
Chr6:49587039 [GRCh37]
Chr6:6p12.3		 pathogenic
GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1 copy number loss See cases [RCV000138349] Chr6:45681671..54212044 [GRCh38]
Chr6:45649408..54076842 [GRCh37]
Chr6:45757386..54184801 [NCBI36]
Chr6:6p21.1-12.1		 pathogenic|uncertain significance
GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1 copy number loss See cases [RCV000141689] Chr6:47191779..51427306 [GRCh38]
Chr6:47159515..51292104 [GRCh37]
Chr6:47267474..51400063 [NCBI36]
Chr6:6p12.3		 likely pathogenic
GRCh37/hg19 6p12.3(chr6:48682849-49834213)x3 copy number gain See cases [RCV000240085] Chr6:48682849..49834213 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) single nucleotide variant Rh-null, regulator type [RCV000490272]|Rh-null, regulator type [RCV002485373]|not provided [RCV002057061] Chr6:49612534 [GRCh38]
Chr6:49580247 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_000324.3(RHAG):c.1007T>C (p.Leu336Ser) single nucleotide variant Overhydrated hereditary stomatocytosis [RCV000505587] Chr6:49611084 [GRCh38]
Chr6:49578797 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.447T>G (p.Ile149Met) single nucleotide variant Overhydrated hereditary stomatocytosis [RCV000505544] Chr6:49618113 [GRCh38]
Chr6:49585826 [GRCh37]
Chr6:6p12.3		 pathogenic
GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)x1 copy number loss See cases [RCV000446897] Chr6:43636308..50947320 [GRCh37]
Chr6:6p21.1-12.3		 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_000324.3(RHAG):c.1085C>T (p.Ala362Val) single nucleotide variant not specified [RCV004303295] Chr6:49607203 [GRCh38]
Chr6:49574916 [GRCh37]
Chr6:6p12.3		 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_000324.3(RHAG):c.807+112G>A single nucleotide variant not provided [RCV001681971] Chr6:49614575 [GRCh38]
Chr6:49582288 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.946-18T>C single nucleotide variant not provided [RCV001541733] Chr6:49611163 [GRCh38]
Chr6:49578876 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.946-171C>T single nucleotide variant not provided [RCV001645123] Chr6:49611316 [GRCh38]
Chr6:49579029 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.1067+8A>G single nucleotide variant not provided [RCV000975271] Chr6:49611016 [GRCh38]
Chr6:49578729 [GRCh37]
Chr6:6p12.3		 likely benign
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
GRCh37/hg19 6p12.3(chr6:48617762-49836065)x3 copy number gain not provided [RCV000849078] Chr6:48617762..49836065 [GRCh37]
Chr6:6p12.3		 uncertain significance
GRCh37/hg19 6p12.3(chr6:49459881-50024153)x1 copy number loss not provided [RCV001005795] Chr6:49459881..50024153 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.827C>G (p.Thr276Ser) single nucleotide variant not specified [RCV003317728] Chr6:49612515 [GRCh38]
Chr6:49580228 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.641-51G>A single nucleotide variant not provided [RCV001678364] Chr6:49614904 [GRCh38]
Chr6:49582617 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.341+260G>C single nucleotide variant not provided [RCV001725464] Chr6:49618919 [GRCh38]
Chr6:49586632 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.990C>T (p.Val330=) single nucleotide variant not provided [RCV000917988] Chr6:49611101 [GRCh38]
Chr6:49578814 [GRCh37]
Chr6:6p12.3		 likely benign
NM_000324.3(RHAG):c.1212+207C>A single nucleotide variant not provided [RCV001595582] Chr6:49606641 [GRCh38]
Chr6:49574354 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.946-100T>C single nucleotide variant not provided [RCV001619240] Chr6:49611245 [GRCh38]
Chr6:49578958 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.158-267T>C single nucleotide variant not provided [RCV001614157] Chr6:49619629 [GRCh38]
Chr6:49587342 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.808-311T>C single nucleotide variant not provided [RCV001724691] Chr6:49612845 [GRCh38]
Chr6:49580558 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.158-152A>G single nucleotide variant not provided [RCV001612152] Chr6:49619514 [GRCh38]
Chr6:49587227 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.807+280C>T single nucleotide variant not provided [RCV001685931] Chr6:49614407 [GRCh38]
Chr6:49582120 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.808-300A>G single nucleotide variant not provided [RCV001681174] Chr6:49612834 [GRCh38]
Chr6:49580547 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.808-236A>G single nucleotide variant not provided [RCV001681347] Chr6:49612770 [GRCh38]
Chr6:49580483 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.158-298T>G single nucleotide variant not provided [RCV001536863] Chr6:49619660 [GRCh38]
Chr6:49587373 [GRCh37]
Chr6:6p12.3		 benign
GRCh37/hg19 6p12.3(chr6:48566675-50063411)x1 copy number loss not provided [RCV001258724] Chr6:48566675..50063411 [GRCh37]
Chr6:6p12.3		 uncertain significance
GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1 copy number loss See cases [RCV001263045] Chr6:48626041..55575545 [GRCh37]
Chr6:6p12.3-12.1		 likely pathogenic
NM_000324.3(RHAG):c.209C>T (p.Thr70Ile) single nucleotide variant not provided [RCV001354429] Chr6:49619311 [GRCh38]
Chr6:49587024 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.1147C>A (p.Leu383Ile) single nucleotide variant not provided [RCV001358411]|not specified [RCV004034501] Chr6:49606913 [GRCh38]
Chr6:49574626 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.341+4A>G single nucleotide variant not provided [RCV001508186] Chr6:49619175 [GRCh38]
Chr6:49586888 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.945+76del deletion not provided [RCV001694020] Chr6:49612321 [GRCh38]
Chr6:49580034 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.1139-2A>G single nucleotide variant not provided [RCV001379849] Chr6:49606923 [GRCh38]
Chr6:49574636 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_000324.3(RHAG):c.140T>C (p.Phe47Ser) single nucleotide variant altered red cell phenotype [RCV001780089] Chr6:49636673 [GRCh38]
Chr6:49604386 [GRCh37]
Chr6:6p12.3		 affects
NM_000324.3(RHAG):c.471C>A (p.Tyr157Ter) single nucleotide variant not provided [RCV001784912] Chr6:49618089 [GRCh38]
Chr6:49585802 [GRCh37]
Chr6:6p12.3		 pathogenic
GRCh37/hg19 6p12.3(chr6:49459881-50012992)x1 copy number loss not provided [RCV001836484] Chr6:49459881..50012992 [GRCh37]
Chr6:6p12.3		 uncertain significance
GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320) copy number loss not specified [RCV002053568] Chr6:43636308..50947320 [GRCh37]
Chr6:6p21.1-12.3		 pathogenic
NM_000324.3(RHAG):c.1067+3G>A single nucleotide variant not provided [RCV001866381] Chr6:49611021 [GRCh38]
Chr6:49578734 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.807+9C>T single nucleotide variant not provided [RCV002096613] Chr6:49614678 [GRCh38]
Chr6:49582391 [GRCh37]
Chr6:6p12.3		 likely benign
NM_000324.3(RHAG):c.1139-7G>A single nucleotide variant not provided [RCV002201416] Chr6:49606928 [GRCh38]
Chr6:49574641 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.492+16T>C single nucleotide variant not provided [RCV002159958] Chr6:49618052 [GRCh38]
Chr6:49585765 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.861G>A (p.Ala287=) single nucleotide variant not provided [RCV002179783] Chr6:49612481 [GRCh38]
Chr6:49580194 [GRCh37]
Chr6:6p12.3		 benign
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3 copy number gain not provided [RCV002221457] Chr6:43636308..64947206 [GRCh37]
Chr6:6p21.1-q12		 likely pathogenic
NC_000006.11:g.(?_49399441)_(49604525_?)dup duplication not provided [RCV003122278] Chr6:49399441..49604525 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.958A>T (p.Thr320Ser) single nucleotide variant not provided [RCV003130411] Chr6:49611133 [GRCh38]
Chr6:49578846 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.974A>G (p.His325Arg) single nucleotide variant Overhydrated hereditary stomatocytosis [RCV003148551] Chr6:49611117 [GRCh38]
Chr6:49578830 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.1101C>T (p.Ser367=) single nucleotide variant not provided [RCV003130410] Chr6:49607187 [GRCh38]
Chr6:49574900 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.939C>T (p.Phe313=) single nucleotide variant not provided [RCV002261781] Chr6:49612403 [GRCh38]
Chr6:49580116 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.329T>C (p.Ile110Thr) single nucleotide variant not provided [RCV002261782] Chr6:49619191 [GRCh38]
Chr6:49586904 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.199T>C (p.Phe67Leu) single nucleotide variant RHAG-related disorder [RCV003903643]|not provided [RCV002261783] Chr6:49619321 [GRCh38]
Chr6:49587034 [GRCh37]
Chr6:6p12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000324.3(RHAG):c.187G>C (p.Val63Leu) single nucleotide variant not provided [RCV002261784]|not specified [RCV004047415] Chr6:49619333 [GRCh38]
Chr6:49587046 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.1165G>A (p.Gly389Arg) single nucleotide variant not provided [RCV003130409] Chr6:49606895 [GRCh38]
Chr6:49574608 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.946-18T>G single nucleotide variant not provided [RCV002617110] Chr6:49611163 [GRCh38]
Chr6:49578876 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.611C>T (p.Ala204Val) single nucleotide variant not provided [RCV003777893]|not specified [RCV004151579] Chr6:49615653 [GRCh38]
Chr6:49583366 [GRCh37]
Chr6:6p12.3		 likely benign|uncertain significance
NM_000324.3(RHAG):c.899G>A (p.Gly300Glu) single nucleotide variant not provided [RCV002842335] Chr6:49612443 [GRCh38]
Chr6:49580156 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.145G>C (p.Glu49Gln) single nucleotide variant not provided [RCV003135231]|not specified [RCV004101799] Chr6:49636668 [GRCh38]
Chr6:49604381 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.256G>A (p.Val86Ile) single nucleotide variant not provided [RCV002928777] Chr6:49619264 [GRCh38]
Chr6:49586977 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.83C>T (p.Thr28Met) single nucleotide variant RHAG-related disorder [RCV003916558]|not provided [RCV002890528] Chr6:49636730 [GRCh38]
Chr6:49604443 [GRCh37]
Chr6:6p12.3		 likely benign
NM_000324.3(RHAG):c.1108G>A (p.Gly370Arg) single nucleotide variant Rh-null, regulator type [RCV004700984]|not specified [RCV004102113] Chr6:49607180 [GRCh38]
Chr6:49574893 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_000324.3(RHAG):c.572G>T (p.Arg191Leu) single nucleotide variant not specified [RCV004095023] Chr6:49615692 [GRCh38]
Chr6:49583405 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.212del (p.Phe71fs) deletion not provided [RCV004791172] Chr6:49619308 [GRCh38]
Chr6:49587021 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_000324.3(RHAG):c.1204T>C (p.Tyr402His) single nucleotide variant not provided [RCV003135761] Chr6:49606856 [GRCh38]
Chr6:49574569 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.437T>C (p.Ile146Thr) single nucleotide variant RHAG-related disorder [RCV003946445]|not provided [RCV003135762]|not specified [RCV004673843] Chr6:49618123 [GRCh38]
Chr6:49585836 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.172C>T (p.His58Tyr) single nucleotide variant not provided [RCV003135763] Chr6:49619348 [GRCh38]
Chr6:49587061 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.138A>G (p.Ile46Met) single nucleotide variant not provided [RCV003135764]|not specified [RCV004661623] Chr6:49636675 [GRCh38]
Chr6:49604388 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.532G>A (p.Gly178Arg) single nucleotide variant not provided [RCV003135765] Chr6:49615732 [GRCh38]
Chr6:49583445 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.1094T>G (p.Leu365Arg) single nucleotide variant not provided [RCV003135766] Chr6:49607194 [GRCh38]
Chr6:49574907 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.791G>A (p.Arg264Gln) single nucleotide variant not provided [RCV003135767] Chr6:49614703 [GRCh38]
Chr6:49582416 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.267G>C (p.Leu89Phe) single nucleotide variant not provided [RCV003135768] Chr6:49619253 [GRCh38]
Chr6:49586966 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.995A>G (p.Asn332Ser) single nucleotide variant not provided [RCV003135769] Chr6:49611096 [GRCh38]
Chr6:49578809 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.102G>C (p.Glu34Asp) single nucleotide variant not provided [RCV003135770] Chr6:49636711 [GRCh38]
Chr6:49604424 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.362G>A (p.Ser121Asn) single nucleotide variant not specified [RCV004268421] Chr6:49618198 [GRCh38]
Chr6:49585911 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.572G>A (p.Arg191Gln) single nucleotide variant not specified [RCV003324347] Chr6:49615692 [GRCh38]
Chr6:49583405 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.518C>T (p.Thr173Met) single nucleotide variant not provided [RCV003481794] Chr6:49615746 [GRCh38]
Chr6:49583459 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.287T>C (p.Ile96Thr) single nucleotide variant RHAG-related disorder [RCV003418933] Chr6:49619233 [GRCh38]
Chr6:49586946 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.920C>T (p.Ser307Phe) single nucleotide variant Rh mod blood group phenotype [RCV003448948] Chr6:49612422 [GRCh38]
Chr6:49580135 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_000324.3(RHAG):c.544G>A (p.Gly182Ser) single nucleotide variant Rh-null, regulator type [RCV003448949] Chr6:49615720 [GRCh38]
Chr6:49583433 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_000324.3(RHAG):c.352G>C (p.Ala118Pro) single nucleotide variant not provided [RCV003436582] Chr6:49618208 [GRCh38]
Chr6:49585921 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.911G>A (p.Gly304Glu) single nucleotide variant not provided [RCV003436581] Chr6:49612431 [GRCh38]
Chr6:49580144 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.1018G>A (p.Val340Met) single nucleotide variant RHAG-related disorder [RCV003417040]|not specified [RCV004362842] Chr6:49611073 [GRCh38]
Chr6:49578786 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.797A>G (p.Lys266Arg) single nucleotide variant not provided [RCV003829147]|not specified [RCV004366797] Chr6:49614697 [GRCh38]
Chr6:49582410 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.695C>T (p.Pro232Leu) single nucleotide variant not provided [RCV003491403] Chr6:49614799 [GRCh38]
Chr6:49582512 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.808-11C>T single nucleotide variant not provided [RCV003824464] Chr6:49612545 [GRCh38]
Chr6:49580258 [GRCh37]
Chr6:6p12.3		 likely benign
NM_000324.3(RHAG):c.1015G>A (p.Val339Ile) single nucleotide variant not provided [RCV003830750] Chr6:49611076 [GRCh38]
Chr6:49578789 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.464A>G (p.Asn155Ser) single nucleotide variant not provided [RCV003491400] Chr6:49618096 [GRCh38]
Chr6:49585809 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.514A>G (p.Met172Val) single nucleotide variant not provided [RCV003491401] Chr6:49615750 [GRCh38]
Chr6:49583463 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.208A>C (p.Thr70Pro) single nucleotide variant not provided [RCV003491402] Chr6:49619312 [GRCh38]
Chr6:49587025 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.213C>T (p.Phe71=) single nucleotide variant not provided [RCV003814836] Chr6:49619307 [GRCh38]
Chr6:49587020 [GRCh37]
Chr6:6p12.3		 likely benign
NM_000324.3(RHAG):c.168T>A (p.Asp56Glu) single nucleotide variant not provided [RCV003668971] Chr6:49619352 [GRCh38]
Chr6:49587065 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.1107C>T (p.Ile369=) single nucleotide variant not provided [RCV003548183] Chr6:49607181 [GRCh38]
Chr6:49574894 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.946-18_946-16del microsatellite not provided [RCV003814255] Chr6:49611161..49611163 [GRCh38]
Chr6:49578874..49578876 [GRCh37]
Chr6:6p12.3		 benign
NM_000324.3(RHAG):c.1057G>A (p.Ala353Thr) single nucleotide variant RHAG-related disorder [RCV003956529]|not provided [RCV003734015] Chr6:49611034 [GRCh38]
Chr6:49578747 [GRCh37]
Chr6:6p12.3		 likely benign
NM_000324.3(RHAG):c.1212+5T>C single nucleotide variant not provided [RCV003557287] Chr6:49606843 [GRCh38]
Chr6:49574556 [GRCh37]
Chr6:6p12.3		 benign|likely benign
NM_000324.3(RHAG):c.808-10G>A single nucleotide variant RHAG-related disorder [RCV003912120] Chr6:49612544 [GRCh38]
Chr6:49580257 [GRCh37]
Chr6:6p12.3		 likely benign
NM_000324.3(RHAG):c.110A>G (p.Asn37Ser) single nucleotide variant not specified [RCV004449249] Chr6:49636703 [GRCh38]
Chr6:49604416 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.1112C>T (p.Thr371Ile) single nucleotide variant not specified [RCV004449250] Chr6:49607176 [GRCh38]
Chr6:49574889 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.1139-8C>T single nucleotide variant RHAG-related disorder [RCV003954605] Chr6:49606929 [GRCh38]
Chr6:49574642 [GRCh37]
Chr6:6p12.3		 likely benign
NM_000324.3(RHAG):c.1165G>C (p.Gly389Arg) single nucleotide variant not provided [RCV004575098] Chr6:49606895 [GRCh38]
Chr6:49574608 [GRCh37]
Chr6:6p12.3		 likely benign
NM_000324.3(RHAG):c.881T>G (p.Phe294Cys) single nucleotide variant not specified [RCV004662998] Chr6:49612461 [GRCh38]
Chr6:49580174 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_000324.3(RHAG):c.1034G>A (p.Gly345Asp) single nucleotide variant not provided [RCV004727275] Chr6:49611057 [GRCh38]
Chr6:49578770 [GRCh37]
Chr6:6p12.3		 likely pathogenic|uncertain significance
NM_000324.3(RHAG):c.1078A>G (p.Met360Val) single nucleotide variant not provided [RCV004772124] Chr6:49607210 [GRCh38]
Chr6:49574923 [GRCh37]
Chr6:6p12.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:425
Count of miRNA genes:335
Interacting mature miRNAs:352
Transcripts:ENST00000229810, ENST00000371175
Prediction methods:Miranda, Rnahybrid, Targetscan
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.

Markers in Region
STS-X64594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,573,125 - 49,573,340UniSTSGRCh37
Build 36649,681,084 - 49,681,299RGDNCBI36
Celera651,129,257 - 51,129,472RGD
Cytogenetic Map6p12.3UniSTS
HuRef649,302,821 - 49,303,036UniSTS
GeneMap99-GB4 RH Map6185.24UniSTS
NCBI RH Map6693.7UniSTS
RH46855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,572,961 - 49,573,147UniSTSGRCh37
Build 36649,680,920 - 49,681,106RGDNCBI36
Celera651,129,093 - 51,129,279RGD
Cytogenetic Map6p12.3UniSTS
HuRef649,302,657 - 49,302,843UniSTS
GeneMap99-GB4 RH Map6183.02UniSTS
NCBI RH Map6693.7UniSTS
STS-R96373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,579,754 - 49,579,933UniSTSGRCh37
Build 36649,687,713 - 49,687,892RGDNCBI36
Celera651,135,886 - 51,136,065RGD
Cytogenetic Map6p12.3UniSTS
HuRef649,309,448 - 49,309,627UniSTS
GeneMap99-GB4 RH Map6185.53UniSTS
NCBI RH Map6693.7UniSTS
SGC35426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,573,300 - 49,573,523UniSTSGRCh37
Build 36649,681,259 - 49,681,482RGDNCBI36
Celera651,129,432 - 51,129,655RGD
Cytogenetic Map6p12.3UniSTS
HuRef649,302,996 - 49,303,219UniSTS
GeneMap99-GB4 RH Map6183.12UniSTS
Whitehead-RH Map6275.5UniSTS
NCBI RH Map6693.7UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1080 2203 2256 1988 3148 1254 1748 3 388 1278 254 1839 5374 5307 20 2319 564 1336 1243 137 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB036993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB938314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF031548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF031549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF178841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF178842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF178843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF178844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF179682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF179683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF179684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF179685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF179686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF179687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF179691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF179699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF179707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU664154 (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
  HF934040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG971762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC445649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ543706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU879002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX447405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY094063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC508243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC570272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC636453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN680547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT596172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG787476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH397221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN262680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT939879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT939880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT939881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ856311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ856312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL541903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM793280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON391947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ488815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X64594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000229810   ⟹   ENSP00000229810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl649,605,733 - 49,636,839 (-)Ensembl
Ensembl Acc Id: ENST00000371175   ⟹   ENSP00000360217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl649,605,175 - 49,636,839 (-)Ensembl
Ensembl Acc Id: ENST00000618248   ⟹   ENSP00000482984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl649,605,733 - 49,636,839 (-)Ensembl
Ensembl Acc Id: ENST00000642530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl649,615,116 - 49,636,839 (-)Ensembl
Ensembl Acc Id: ENST00000646272   ⟹   ENSP00000494337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl649,605,175 - 49,636,839 (-)Ensembl
Ensembl Acc Id: ENST00000646874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl649,612,409 - 49,615,267 (-)Ensembl
Ensembl Acc Id: ENST00000646939   ⟹   ENSP00000494709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl649,605,723 - 49,636,839 (-)Ensembl
Ensembl Acc Id: ENST00000646963   ⟹   ENSP00000495337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl649,605,813 - 49,636,839 (-)Ensembl
RefSeq Acc Id: NM_000324   ⟹   NP_000315
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38649,605,175 - 49,636,839 (-)NCBI
GRCh37649,572,888 - 49,604,587 (-)ENTREZGENE
Build 36649,680,847 - 49,712,546 (-)NCBI Archive
HuRef649,302,584 - 49,334,437 (-)ENTREZGENE
CHM1_1649,575,821 - 49,607,510 (-)NCBI
T2T-CHM13v2.0649,447,195 - 49,478,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514788   ⟹   XP_011513090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38649,614,910 - 49,636,839 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054356161   ⟹   XP_054212136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0649,456,707 - 49,478,851 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000315 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513090 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212136 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB36027 (Get FASTA)   NCBI Sequence Viewer  
  AAB36028 (Get FASTA)   NCBI Sequence Viewer  
  AAC04247 (Get FASTA)   NCBI Sequence Viewer  
  AAC04248 (Get FASTA)   NCBI Sequence Viewer  
  AAC04250 (Get FASTA)   NCBI Sequence Viewer  
  AAD34199 (Get FASTA)   NCBI Sequence Viewer  
  AAD54392 (Get FASTA)   NCBI Sequence Viewer  
  AAD56366 (Get FASTA)   NCBI Sequence Viewer  
  AAD56367 (Get FASTA)   NCBI Sequence Viewer  
  AAD56368 (Get FASTA)   NCBI Sequence Viewer  
  AAF04566 (Get FASTA)   NCBI Sequence Viewer  
  AAF23097 (Get FASTA)   NCBI Sequence Viewer  
  AAF23098 (Get FASTA)   NCBI Sequence Viewer  
  AAF23099 (Get FASTA)   NCBI Sequence Viewer  
  AAF23100 (Get FASTA)   NCBI Sequence Viewer  
  AAF23101 (Get FASTA)   NCBI Sequence Viewer  
  AAF78209 (Get FASTA)   NCBI Sequence Viewer  
  AAH12605 (Get FASTA)   NCBI Sequence Viewer  
  AGG39759 (Get FASTA)   NCBI Sequence Viewer  
  AHY04440 (Get FASTA)   NCBI Sequence Viewer  
  AOW69228 (Get FASTA)   NCBI Sequence Viewer  
  AQM55598 (Get FASTA)   NCBI Sequence Viewer  
  ASW24935 (Get FASTA)   NCBI Sequence Viewer  
  AYM94188 (Get FASTA)   NCBI Sequence Viewer  
  BAB00642 (Get FASTA)   NCBI Sequence Viewer  
  BAG36285 (Get FASTA)   NCBI Sequence Viewer  
  BAP94457 (Get FASTA)   NCBI Sequence Viewer  
  BBO94006 (Get FASTA)   NCBI Sequence Viewer  
  BCI65376 (Get FASTA)   NCBI Sequence Viewer  
  BCY16066 (Get FASTA)   NCBI Sequence Viewer  
  CAA45883 (Get FASTA)   NCBI Sequence Viewer  
  CCV19772 (Get FASTA)   NCBI Sequence Viewer  
  CDO67716 (Get FASTA)   NCBI Sequence Viewer  
  CEJ95650 (Get FASTA)   NCBI Sequence Viewer  
  EAX04337 (Get FASTA)   NCBI Sequence Viewer  
  EAX04338 (Get FASTA)   NCBI Sequence Viewer  
  EAX04339 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000360217
  ENSP00000360217.4
  ENSP00000494337.1
  ENSP00000494709.1
  ENSP00000495337.1
GenBank Protein Q02094 (Get FASTA)   NCBI Sequence Viewer  
  QBB67486 (Get FASTA)   NCBI Sequence Viewer  
  QKV49401 (Get FASTA)   NCBI Sequence Viewer  
  QPD99007 (Get FASTA)   NCBI Sequence Viewer  
  QPD99008 (Get FASTA)   NCBI Sequence Viewer  
  QPD99009 (Get FASTA)   NCBI Sequence Viewer  
  SBU87553 (Get FASTA)   NCBI Sequence Viewer  
  UUA80874 (Get FASTA)   NCBI Sequence Viewer  
  UUA80875 (Get FASTA)   NCBI Sequence Viewer  
  UWK22057 (Get FASTA)   NCBI Sequence Viewer  
  UYW66190 (Get FASTA)   NCBI Sequence Viewer  
  WAN90137 (Get FASTA)   NCBI Sequence Viewer  
  XKB63149 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000315   ⟸   NM_000324
- UniProtKB: Q7L8L3 (UniProtKB/Swiss-Prot),   O43515 (UniProtKB/Swiss-Prot),   O43514 (UniProtKB/Swiss-Prot),   B2R8T8 (UniProtKB/Swiss-Prot),   Q9H454 (UniProtKB/Swiss-Prot),   Q02094 (UniProtKB/Swiss-Prot),   A0A1Q1NHH4 (UniProtKB/TrEMBL),   A0A6S6PEI8 (UniProtKB/TrEMBL),   A0A7S8RFX7 (UniProtKB/TrEMBL),   A0A7S8RGC4 (UniProtKB/TrEMBL),   M5FJR4 (UniProtKB/TrEMBL),   Q9UK70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513090   ⟸   XM_011514788
- Peptide Label: isoform X1
- UniProtKB: A0A0A1TSG9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000360217   ⟸   ENST00000371175
Ensembl Acc Id: ENSP00000229810   ⟸   ENST00000229810
Ensembl Acc Id: ENSP00000482984   ⟸   ENST00000618248
Ensembl Acc Id: ENSP00000494709   ⟸   ENST00000646939
Ensembl Acc Id: ENSP00000495337   ⟸   ENST00000646963
Ensembl Acc Id: ENSP00000494337   ⟸   ENST00000646272
RefSeq Acc Id: XP_054212136   ⟸   XM_054356161
- Peptide Label: isoform X1
- UniProtKB: A0A0A1TSG9 (UniProtKB/TrEMBL)
Protein Domains
Ammonium transporter AmtB-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02094-F1-model_v2 AlphaFold Q02094 1-409 view protein structure

Promoters
RGD ID:7208295
Promoter ID:EPDNEW_H9893
Type:initiation region
Name:RHAG_1
Description:Rh-associated glycoprotein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38649,636,839 - 49,636,899EPDNEW
RGD ID:6804625
Promoter ID:HG_KWN:53795
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000043806,   UC010JZL.1,   UC010JZM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36649,712,246 - 49,712,746 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10006 AgrOrtholog
COSMIC RHAG COSMIC
Ensembl Genes ENSG00000112077 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000371175 ENTREZGENE
  ENST00000371175.10 UniProtKB/Swiss-Prot
  ENST00000646272.1 UniProtKB/TrEMBL
  ENST00000646939.1 UniProtKB/Swiss-Prot
  ENST00000646963.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.3430.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112077 GTEx
HGNC ID HGNC:10006 ENTREZGENE
Human Proteome Map RHAG Human Proteome Map
InterPro Ammonium/urea_transptr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NH4_transpt_AmtB-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhesusRHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6005 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6005 ENTREZGENE
OMIM 180297 OMIM
PANTHER AMMONIUM TRANSPORTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMMONIUM TRANSPORTER RH TYPE A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ammonium_transp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34381 PharmGKB
PRINTS RHESUSRHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Ammonium transporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A023UN48_HUMAN UniProtKB/TrEMBL
  A0A0A1TSG9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A8IKZ2_HUMAN UniProtKB/TrEMBL
  A0A1A9C9I6_HUMAN UniProtKB/TrEMBL
  A0A1D8RAA9_HUMAN UniProtKB/TrEMBL
  A0A1Q1NHH4 ENTREZGENE, UniProtKB/TrEMBL
  A0A248X8V9_HUMAN UniProtKB/TrEMBL
  A0A2R8YEH1_HUMAN UniProtKB/TrEMBL
  A0A3G2FPG1_HUMAN UniProtKB/TrEMBL
  A0A411HBG8_HUMAN UniProtKB/TrEMBL
  A0A6S4QW46_HUMAN UniProtKB/TrEMBL
  A0A6S6PEI8 ENTREZGENE, UniProtKB/TrEMBL
  A0A7D4WXE7_HUMAN UniProtKB/TrEMBL
  A0A7S8MU46_HUMAN UniProtKB/TrEMBL
  A0A7S8RFX7 ENTREZGENE, UniProtKB/TrEMBL
  A0A7S8RGC4 ENTREZGENE, UniProtKB/TrEMBL
  A0A8D5ZBQ7_HUMAN UniProtKB/TrEMBL
  B2R8T8 ENTREZGENE
  M1SZX7_HUMAN UniProtKB/TrEMBL
  M5FJR4 ENTREZGENE, UniProtKB/TrEMBL
  O43514 ENTREZGENE
  O43515 ENTREZGENE
  Q02094 ENTREZGENE
  Q7L8L3 ENTREZGENE
  Q96E98_HUMAN UniProtKB/TrEMBL
  Q9H454 ENTREZGENE
  Q9UBB8_HUMAN UniProtKB/TrEMBL
  Q9UHG9_HUMAN UniProtKB/TrEMBL
  Q9UK69_HUMAN UniProtKB/TrEMBL
  Q9UK70 ENTREZGENE, UniProtKB/TrEMBL
  RHAG_HUMAN UniProtKB/Swiss-Prot
  X5MNR9_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R8T8 UniProtKB/Swiss-Prot
  O43514 UniProtKB/Swiss-Prot
  O43515 UniProtKB/Swiss-Prot
  Q7L8L3 UniProtKB/Swiss-Prot
  Q9H454 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-09-26 RHAG  Rh associated glycoprotein  RHAG  Rh-associated glycoprotein  Symbol and/or name change 5135510 APPROVED