Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SLC4A7 | Human | Usher syndrome type 2C | | ISS | Slc4a7 (Mus musculus) | 13592920 | OMIM:605472 | MouseDO | | |
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Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SLC4A7 | Human | Usher syndrome type 2C | | ISS | Slc4a7 (Mus musculus) | 13592920 | OMIM:605472 | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:9610397 | PMID:10198178 | PMID:10347222 | PMID:10600945 | PMID:12403779 | PMID:12444018 | PMID:14578046 | PMID:14736710 | PMID:15144186 | PMID:15324660 | PMID:16301216 | PMID:16344560 |
PMID:17353931 | PMID:17624982 | PMID:17715183 | PMID:18976975 | PMID:19330027 | PMID:20095854 | PMID:20145138 | PMID:20453838 | PMID:20542029 | PMID:21224233 | PMID:21263130 | PMID:21873635 |
PMID:21909110 | PMID:21909115 | PMID:22120673 | PMID:22383045 | PMID:22907202 | PMID:23117855 | PMID:23183381 | PMID:23535729 | PMID:24493630 | PMID:24788003 | PMID:25241983 | PMID:25249183 |
PMID:25468996 | PMID:25609649 | PMID:25737280 | PMID:25921289 | PMID:26186194 | PMID:26439863 | PMID:26496610 | PMID:26514267 | PMID:26638075 | PMID:27342126 | PMID:27609814 | PMID:27717805 |
PMID:27784683 | PMID:28087731 | PMID:28087757 | PMID:28514442 | PMID:28515276 | PMID:28692057 | PMID:28986522 | PMID:29117863 | PMID:29180619 | PMID:29395067 | PMID:29507755 | PMID:29511261 |
PMID:29568061 | PMID:29779931 | PMID:30194290 | PMID:30442766 | PMID:30639242 | PMID:31056421 | PMID:31527615 | PMID:31586073 | PMID:31678930 | PMID:31732153 | PMID:31871319 | PMID:31980649 |
PMID:31995728 | PMID:32296183 | PMID:32620847 | PMID:32694731 | PMID:32707033 | PMID:32788342 | PMID:32877691 | PMID:33397691 | PMID:33417871 | PMID:33957083 | PMID:33961781 | PMID:34079125 |
PMID:34315543 | PMID:34349018 | PMID:34432599 | PMID:34597346 | PMID:34672954 | PMID:34709727 | PMID:34745083 | PMID:35198878 | PMID:35271311 | PMID:35384245 | PMID:35772404 | PMID:35844135 |
PMID:36215168 | PMID:36237976 | PMID:36931259 | PMID:36964488 | PMID:36976175 | PMID:37039101 | PMID:37128157 | PMID:37478010 | PMID:37536630 | PMID:37616343 | PMID:37774976 | PMID:38117590 |
PMID:38310186 | PMID:38569033 | PMID:38891874 |
SLC4A7 (Homo sapiens - human) |
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Slc4a7 (Mus musculus - house mouse) |
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Slc4a7 (Rattus norvegicus - Norway rat) |
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Slc4a7 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC4A7 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC4A7 (Canis lupus familiaris - dog) |
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Slc4a7 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC4A7 (Sus scrofa - pig) |
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SLC4A7 (Chlorocebus sabaeus - green monkey) |
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Slc4a7 (Heterocephalus glaber - naked mole-rat) |
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Variants in SLC4A7
79 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 | copy number gain | See cases [RCV000051097] | Chr3:52266..37148076 [GRCh38] Chr3:93949..37189567 [GRCh37] Chr3:68949..37164571 [NCBI36] Chr3:3p26.3-22.2 |
pathogenic |
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] | Chr3:52266..29248782 [GRCh38] Chr3:93949..29290273 [GRCh37] Chr3:68949..29265277 [NCBI36] Chr3:3p26.3-24.1 |
pathogenic |
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 | copy number gain | See cases [RCV000051720] | Chr3:11463328..38919543 [GRCh38] Chr3:11504802..38961034 [GRCh37] Chr3:11479802..38936038 [NCBI36] Chr3:3p25.3-22.2 |
pathogenic |
NM_003615.4(SLC4A7):c.694C>T (p.Arg232Ter) | single nucleotide variant | Malignant melanoma [RCV000066003] | Chr3:27433973 [GRCh38] Chr3:27475464 [GRCh37] Chr3:27450468 [NCBI36] Chr3:3p24.1 |
not provided |
NM_003615.4(SLC4A7):c.1148C>T (p.Ala383Val) | single nucleotide variant | Malignant melanoma [RCV000060800] | Chr3:27424128 [GRCh38] Chr3:27465619 [GRCh37] Chr3:27440623 [NCBI36] Chr3:3p24.1 |
not provided |
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 | copy number gain | See cases [RCV000138004] | Chr3:32241..30064208 [GRCh38] Chr3:73914..30105699 [GRCh37] Chr3:48914..30080703 [NCBI36] Chr3:3p26.3-24.1 |
pathogenic |
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 | copy number gain | See cases [RCV000141810] | Chr3:53308..41381521 [GRCh38] Chr3:94991..41423012 [GRCh37] Chr3:69991..41398016 [NCBI36] Chr3:3p26.3-22.1 |
pathogenic |
GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)x1 | copy number loss | See cases [RCV000447472] | Chr3:25045365..32691140 [GRCh37] Chr3:3p24.2-22.3 |
likely pathogenic |
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 | copy number gain | See cases [RCV000448528] | Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 | copy number gain | See cases [RCV000510429] | Chr3:61891..33958201 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 | copy number gain | See cases [RCV000511463] | Chr3:61891..37459464 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
NM_001321103.2(SLC4A7):c.3294G>C (p.Gln1098His) | single nucleotide variant | not specified [RCV004281703] | Chr3:27389997 [GRCh38] Chr3:27431488 [GRCh37] Chr3:3p24.1 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 | copy number gain | See cases [RCV000511055] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) | copy number gain | See cases [RCV000512358] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p24.1(chr3:27020353-27440096)x3 | copy number gain | not provided [RCV000682252] | Chr3:27020353..27440096 [GRCh37] Chr3:3p24.1 |
likely benign |
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 | copy number gain | not provided [RCV000682249] | Chr3:16923595..45249923 [GRCh37] Chr3:3p24.3-21.31 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 | copy number gain | not provided [RCV000742138] | Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 | copy number gain | not provided [RCV000742133] | Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_001321103.2(SLC4A7):c.1052A>G (p.Asp351Gly) | single nucleotide variant | not specified [RCV004306867] | Chr3:27431396 [GRCh38] Chr3:27472887 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.1460C>T (p.Ala487Val) | single nucleotide variant | not specified [RCV004282024] | Chr3:27420752 [GRCh38] Chr3:27462243 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.3472A>G (p.Lys1158Glu) | single nucleotide variant | not specified [RCV004302425] | Chr3:27385912 [GRCh38] Chr3:27427403 [GRCh37] Chr3:3p24.1 |
uncertain significance |
GRCh37/hg19 3p24.1(chr3:26711697-27483497)x3 | copy number gain | not provided [RCV001005421] | Chr3:26711697..27483497 [GRCh37] Chr3:3p24.1 |
uncertain significance |
GRCh37/hg19 3p24.2-24.1(chr3:25901794-29520717)x1 | copy number loss | not provided [RCV001005420] | Chr3:25901794..29520717 [GRCh37] Chr3:3p24.2-24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.158A>G (p.Tyr53Cys) | single nucleotide variant | not specified [RCV004683800] | Chr3:27448782 [GRCh38] Chr3:27490273 [GRCh37] Chr3:3p24.1 |
uncertain significance |
GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140) | copy number loss | not specified [RCV002053334] | Chr3:25045365..32691140 [GRCh37] Chr3:3p24.2-22.3 |
likely pathogenic |
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) | copy number gain | not specified [RCV002053300] | Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
NC_000003.11:g.(?_16710965)_(41275270_?)del | deletion | not provided [RCV001958625] | Chr3:16710965..41275270 [GRCh37] Chr3:3p24.3-22.1 |
pathogenic |
NM_001321103.2(SLC4A7):c.980G>A (p.Arg327His) | single nucleotide variant | not specified [RCV004683801] | Chr3:27431468 [GRCh38] Chr3:27472959 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.2909T>C (p.Met970Thr) | single nucleotide variant | not specified [RCV004129023] | Chr3:27394726 [GRCh38] Chr3:27436217 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.2905G>A (p.Val969Ile) | single nucleotide variant | not specified [RCV004213040] | Chr3:27394730 [GRCh38] Chr3:27436221 [GRCh37] Chr3:3p24.1 |
likely benign |
NM_001321103.2(SLC4A7):c.1889C>G (p.Ser630Cys) | single nucleotide variant | not specified [RCV004116826] | Chr3:27409408 [GRCh38] Chr3:27450899 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.206G>A (p.Arg69Lys) | single nucleotide variant | not specified [RCV004245886] | Chr3:27448734 [GRCh38] Chr3:27490225 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.604A>C (p.Asn202His) | single nucleotide variant | not specified [RCV004132958] | Chr3:27434090 [GRCh38] Chr3:27475581 [GRCh37] Chr3:3p24.1 |
uncertain significance |
GRCh37/hg19 3p24.1(chr3:27428473-27672614)x3 | copy number gain | not provided [RCV002475695] | Chr3:27428473..27672614 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.920G>C (p.Arg307Thr) | single nucleotide variant | not specified [RCV004173096] | Chr3:27431528 [GRCh38] Chr3:27473019 [GRCh37] Chr3:3p24.1 |
uncertain significance |
GRCh37/hg19 3p24.1(chr3:27020354-27440096)x3 | copy number gain | not provided [RCV002475746] | Chr3:27020354..27440096 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.800G>A (p.Arg267His) | single nucleotide variant | not specified [RCV004172003] | Chr3:27431648 [GRCh38] Chr3:27473139 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.910G>A (p.Ala304Thr) | single nucleotide variant | not specified [RCV004170482] | Chr3:27431538 [GRCh38] Chr3:27473029 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.3562C>A (p.Gln1188Lys) | single nucleotide variant | not specified [RCV004112044] | Chr3:27383181 [GRCh38] Chr3:27424672 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.200G>A (p.Arg67His) | single nucleotide variant | not specified [RCV004215578] | Chr3:27448740 [GRCh38] Chr3:27490231 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.1338C>G (p.Asp446Glu) | single nucleotide variant | not specified [RCV004246754] | Chr3:27421708 [GRCh38] Chr3:27463199 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.2287A>G (p.Met763Val) | single nucleotide variant | not specified [RCV004174570] | Chr3:27403173 [GRCh38] Chr3:27444664 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.2090C>G (p.Ser697Cys) | single nucleotide variant | not specified [RCV004115641] | Chr3:27403370 [GRCh38] Chr3:27444861 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.2063A>G (p.Tyr688Cys) | single nucleotide variant | not specified [RCV004174490] | Chr3:27404842 [GRCh38] Chr3:27446333 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.61-4178G>A | single nucleotide variant | not specified [RCV004152009] | Chr3:27456676 [GRCh38] Chr3:27498167 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.3244T>C (p.Tyr1082His) | single nucleotide variant | not specified [RCV004149882] | Chr3:27390047 [GRCh38] Chr3:27431538 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.812G>A (p.Arg271Gln) | single nucleotide variant | not specified [RCV004215065] | Chr3:27431636 [GRCh38] Chr3:27473127 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.1950A>G (p.Ile650Met) | single nucleotide variant | not specified [RCV004153509] | Chr3:27404955 [GRCh38] Chr3:27446446 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.3410A>C (p.Lys1137Thr) | single nucleotide variant | not specified [RCV004154776] | Chr3:27385974 [GRCh38] Chr3:27427465 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.2976T>G (p.His992Gln) | single nucleotide variant | not specified [RCV004110436] | Chr3:27394659 [GRCh38] Chr3:27436150 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.199C>T (p.Arg67Cys) | single nucleotide variant | not specified [RCV004278785] | Chr3:27448741 [GRCh38] Chr3:27490232 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.1948A>G (p.Ile650Val) | single nucleotide variant | not specified [RCV004264852] | Chr3:27404957 [GRCh38] Chr3:27446448 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.2330G>T (p.Cys777Phe) | single nucleotide variant | not specified [RCV004279424] | Chr3:27400861 [GRCh38] Chr3:27442352 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.1736A>C (p.His579Pro) | single nucleotide variant | not specified [RCV004271845] | Chr3:27411672 [GRCh38] Chr3:27453163 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.608T>C (p.Met203Thr) | single nucleotide variant | not specified [RCV004360011] | Chr3:27434086 [GRCh38] Chr3:27475577 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.286T>C (p.Tyr96His) | single nucleotide variant | not specified [RCV004351853] | Chr3:27448654 [GRCh38] Chr3:27490145 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.1688A>G (p.Asn563Ser) | single nucleotide variant | not specified [RCV004344091] | Chr3:27411720 [GRCh38] Chr3:27453211 [GRCh37] Chr3:3p24.1 |
uncertain significance |
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 | copy number gain | not provided [RCV003484107] | Chr3:310747..28297447 [GRCh37] Chr3:3p26.3-24.1 |
pathogenic |
GRCh37/hg19 3p24.1(chr3:27510304-27721198)x3 | copy number gain | not provided [RCV003484120] | Chr3:27510304..27721198 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.2141T>G (p.Ile714Ser) | single nucleotide variant | not provided [RCV003437737] | Chr3:27403319 [GRCh38] Chr3:27444810 [GRCh37] Chr3:3p24.1 |
uncertain significance |
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 | copy number gain | not specified [RCV003986437] | Chr3:61891..33946644 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
NM_001321103.2(SLC4A7):c.60G>A (p.Arg20=) | single nucleotide variant | SLC4A7-related disorder [RCV003961799] | Chr3:27484067 [GRCh38] Chr3:27525558 [GRCh37] Chr3:3p24.1 |
likely benign |
NM_001321103.2(SLC4A7):c.2715A>G (p.Pro905=) | single nucleotide variant | SLC4A7-related disorder [RCV003903970] | Chr3:27395104 [GRCh38] Chr3:27436595 [GRCh37] Chr3:3p24.1 |
likely benign |
NM_001321103.2(SLC4A7):c.636C>T (p.Ser212=) | single nucleotide variant | SLC4A7-related disorder [RCV003959787] | Chr3:27434058 [GRCh38] Chr3:27475549 [GRCh37] Chr3:3p24.1 |
likely benign |
NM_001321103.2(SLC4A7):c.3698+8T>C | single nucleotide variant | SLC4A7-related disorder [RCV003961391] | Chr3:27379241 [GRCh38] Chr3:27420732 [GRCh37] Chr3:3p24.1 |
likely benign |
NM_001321103.2(SLC4A7):c.2496T>C (p.Asp832=) | single nucleotide variant | SLC4A7-related disorder [RCV003966806] | Chr3:27398285 [GRCh38] Chr3:27439776 [GRCh37] Chr3:3p24.1 |
likely benign |
NM_001321103.2(SLC4A7):c.1513-3T>C | single nucleotide variant | SLC4A7-related disorder [RCV003933844] | Chr3:27418635 [GRCh38] Chr3:27460126 [GRCh37] Chr3:3p24.1 |
likely benign |
NM_001321103.2(SLC4A7):c.1093G>A (p.Glu365Lys) | single nucleotide variant | SLC4A7-related disorder [RCV003911707] | Chr3:27431355 [GRCh38] Chr3:27472846 [GRCh37] Chr3:3p24.1 |
likely benign |
NM_001321103.2(SLC4A7):c.706C>A (p.Arg236=) | single nucleotide variant | SLC4A7-related disorder [RCV003923832] | Chr3:27433988 [GRCh38] Chr3:27475479 [GRCh37] Chr3:3p24.1 |
likely benign |
NM_001321103.2(SLC4A7):c.1227T>C (p.Ser409=) | single nucleotide variant | SLC4A7-related disorder [RCV003903984] | Chr3:27424076 [GRCh38] Chr3:27465567 [GRCh37] Chr3:3p24.1 |
likely benign |
NM_001321103.2(SLC4A7):c.3043C>T (p.Arg1015Cys) | single nucleotide variant | not specified [RCV004463986] | Chr3:27394592 [GRCh38] Chr3:27436083 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.3251G>A (p.Arg1084His) | single nucleotide variant | not specified [RCV004463988] | Chr3:27390040 [GRCh38] Chr3:27431531 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.2644A>G (p.Thr882Ala) | single nucleotide variant | not specified [RCV004463983] | Chr3:27397743 [GRCh38] Chr3:27439234 [GRCh37] Chr3:3p24.1 |
likely benign |
NM_001321103.2(SLC4A7):c.2795G>A (p.Cys932Tyr) | single nucleotide variant | not specified [RCV004463985] | Chr3:27395024 [GRCh38] Chr3:27436515 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.878A>G (p.His293Arg) | single nucleotide variant | not specified [RCV004463992] | Chr3:27431570 [GRCh38] Chr3:27473061 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.3334G>C (p.Ala1112Pro) | single nucleotide variant | not specified [RCV004463989] | Chr3:27389957 [GRCh38] Chr3:27431448 [GRCh37] Chr3:3p24.1 |
uncertain significance |
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 | copy number gain | not provided [RCV004577500] | Chr3:60000..34461438 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
NM_001321103.2(SLC4A7):c.1715C>T (p.Thr572Ile) | single nucleotide variant | not specified [RCV004463982] | Chr3:27411693 [GRCh38] Chr3:27453184 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.61-4178G>C | single nucleotide variant | not specified [RCV004463995] | Chr3:27456676 [GRCh38] Chr3:27498167 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.2747A>T (p.Asp916Val) | single nucleotide variant | not specified [RCV004463984] | Chr3:27395072 [GRCh38] Chr3:27436563 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.3129G>A (p.Met1043Ile) | single nucleotide variant | not specified [RCV004463987] | Chr3:27391797 [GRCh38] Chr3:27433288 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.3502C>T (p.Arg1168Trp) | single nucleotide variant | not specified [RCV004463990] | Chr3:27383241 [GRCh38] Chr3:27424732 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.574C>G (p.Leu192Val) | single nucleotide variant | not specified [RCV004463991] | Chr3:27436403 [GRCh38] Chr3:27477894 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.911C>T (p.Ala304Val) | single nucleotide variant | not specified [RCV004463994] | Chr3:27431537 [GRCh38] Chr3:27473028 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.881T>A (p.Leu294His) | single nucleotide variant | not specified [RCV004463993] | Chr3:27431567 [GRCh38] Chr3:27473058 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.1795A>C (p.Lys599Gln) | single nucleotide variant | not specified [RCV004674865] | Chr3:27409502 [GRCh38] Chr3:27450993 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.3197G>A (p.Arg1066His) | single nucleotide variant | not specified [RCV004674866] | Chr3:27390094 [GRCh38] Chr3:27431585 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.1013G>A (p.Arg338His) | single nucleotide variant | not specified [RCV004674867] | Chr3:27431435 [GRCh38] Chr3:27472926 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.2186C>G (p.Thr729Ser) | single nucleotide variant | not specified [RCV004674868] | Chr3:27403274 [GRCh38] Chr3:27444765 [GRCh37] Chr3:3p24.1 |
uncertain significance |
NM_001321103.2(SLC4A7):c.2293A>G (p.Asn765Asp) | single nucleotide variant | not specified [RCV004674864] | Chr3:27403167 [GRCh38] Chr3:27444658 [GRCh37] Chr3:3p24.1 |
uncertain significance |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
WI-18242 |
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SHGC-76801 |
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RH92347 |
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G59804 |
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G63491 |
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SHGC-149867 |
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SLC4A7_7948 |
|
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 | 4972 | 1726 | 2351 | 5 | 624 | 1950 | 465 | 2269 | 7303 | 6469 | 53 | 3733 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NG_032673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001258379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001258380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001321103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001321104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001321105 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001321106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001321107 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001321108 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_003615 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_135541 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_135542 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_135543 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_135544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005265598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005265600 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006713421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011534256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011534258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011534261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011534263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011534265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017007526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017007527 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017007528 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017007529 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047449246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047449247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047449248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348457 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348459 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348460 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348461 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348463 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348464 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348465 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348467 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348468 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001740371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001740372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA569234 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB012130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC099535 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF047033 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF053755 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF089726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK310865 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL389947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL833589 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR627428 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA756057 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU499349 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU934246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU934247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU934248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU934249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU934250 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FJ178574 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FJ178575 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FJ178576 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GU354307 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GU354308 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GU354309 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GU354310 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000295736 ⟹ ENSP00000295736 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000419036 ⟹ ENSP00000411031 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000425128 ⟹ ENSP00000401949 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000428005 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000428179 ⟹ ENSP00000388703 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000428386 ⟹ ENSP00000416368 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000437179 ⟹ ENSP00000394252 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000437266 ⟹ ENSP00000409418 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000438530 ⟹ ENSP00000407304 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000440156 ⟹ ENSP00000414797 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000445684 ⟹ ENSP00000406804 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000446700 ⟹ ENSP00000406605 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000454389 ⟹ ENSP00000390394 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000455077 ⟹ ENSP00000407382 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000457377 ⟹ ENSP00000408323 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000465487 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000475120 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000491211 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001258379 ⟹ NP_001245308 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001258380 ⟹ NP_001245309 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321103 ⟹ NP_001308032 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321104 ⟹ NP_001308033 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321105 ⟹ NP_001308034 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321106 ⟹ NP_001308035 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321107 ⟹ NP_001308036 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321108 ⟹ NP_001308037 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_003615 ⟹ NP_003606 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_135541 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_135542 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_135543 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_135544 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005265598 ⟹ XP_005265655 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005265600 ⟹ XP_005265657 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006713421 ⟹ XP_006713484 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011534256 ⟹ XP_011532558 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011534258 ⟹ XP_011532560 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011534261 ⟹ XP_011532563 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011534263 ⟹ XP_011532565 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011534265 ⟹ XP_011532567 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017007527 ⟹ XP_016863016 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017007528 ⟹ XP_016863017 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017007529 ⟹ XP_016863018 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047449246 ⟹ XP_047305202 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047449247 ⟹ XP_047305203 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047449248 ⟹ XP_047305204 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348456 ⟹ XP_054204431 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348457 ⟹ XP_054204432 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348458 ⟹ XP_054204433 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348459 ⟹ XP_054204434 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348460 ⟹ XP_054204435 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348461 ⟹ XP_054204436 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348462 ⟹ XP_054204437 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348463 ⟹ XP_054204438 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348464 ⟹ XP_054204439 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348465 ⟹ XP_054204440 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348466 ⟹ XP_054204441 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348467 ⟹ XP_054204442 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348468 ⟹ XP_054204443 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348469 ⟹ XP_054204444 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001245308 | (Get FASTA) | NCBI Sequence Viewer |
NP_001245309 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001308032 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001308033 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001308034 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001308035 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001308036 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001308037 | (Get FASTA) | NCBI Sequence Viewer | |
NP_003606 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005265655 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005265657 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006713484 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011532558 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011532560 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011532563 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011532565 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011532567 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016863016 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016863017 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016863018 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047305202 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047305203 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047305204 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204431 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204432 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204433 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204434 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204435 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204436 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204437 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204438 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204439 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204440 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204441 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204442 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204443 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204444 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD38322 | (Get FASTA) | NCBI Sequence Viewer |
AAF21720 | (Get FASTA) | NCBI Sequence Viewer | |
AAG16773 | (Get FASTA) | NCBI Sequence Viewer | |
ACB47400 | (Get FASTA) | NCBI Sequence Viewer | |
ACH61958 | (Get FASTA) | NCBI Sequence Viewer | |
ACH61959 | (Get FASTA) | NCBI Sequence Viewer | |
ACH61960 | (Get FASTA) | NCBI Sequence Viewer | |
ACH61961 | (Get FASTA) | NCBI Sequence Viewer | |
ACH61962 | (Get FASTA) | NCBI Sequence Viewer | |
ACI24740 | (Get FASTA) | NCBI Sequence Viewer | |
ACI24741 | (Get FASTA) | NCBI Sequence Viewer | |
ACI24742 | (Get FASTA) | NCBI Sequence Viewer | |
ADC32649 | (Get FASTA) | NCBI Sequence Viewer | |
ADC32650 | (Get FASTA) | NCBI Sequence Viewer | |
ADC32651 | (Get FASTA) | NCBI Sequence Viewer | |
ADC32652 | (Get FASTA) | NCBI Sequence Viewer | |
BAA25898 | (Get FASTA) | NCBI Sequence Viewer | |
CAH10515 | (Get FASTA) | NCBI Sequence Viewer | |
EAW64381 | (Get FASTA) | NCBI Sequence Viewer | |
EAW64382 | (Get FASTA) | NCBI Sequence Viewer | |
EAW64383 | (Get FASTA) | NCBI Sequence Viewer | |
EAW64384 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000295736 | ||
ENSP00000295736.5 | |||
ENSP00000388703.1 | |||
ENSP00000390394 | |||
ENSP00000390394.1 | |||
ENSP00000394252 | |||
ENSP00000394252.1 | |||
ENSP00000406605 | |||
ENSP00000406605.1 | |||
ENSP00000406804 | |||
ENSP00000406804.1 | |||
ENSP00000407304.1 | |||
ENSP00000407382 | |||
ENSP00000407382.1 | |||
ENSP00000408323.1 | |||
ENSP00000409418 | |||
ENSP00000409418.1 | |||
ENSP00000411031 | |||
ENSP00000411031.1 | |||
ENSP00000414797 | |||
ENSP00000414797.1 | |||
ENSP00000416368 | |||
ENSP00000416368.1 | |||
GenBank Protein | Q9Y6M7 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_003606 ⟸ NM_003615 |
- Peptide Label: | isoform a |
- UniProtKB: | Q9HC88 (UniProtKB/Swiss-Prot), Q6AHZ9 (UniProtKB/Swiss-Prot), O60350 (UniProtKB/Swiss-Prot), D3K175 (UniProtKB/Swiss-Prot), D3K174 (UniProtKB/Swiss-Prot), C9JST9 (UniProtKB/Swiss-Prot), B6DY53 (UniProtKB/Swiss-Prot), B6DY52 (UniProtKB/Swiss-Prot), B5M453 (UniProtKB/Swiss-Prot), B5M452 (UniProtKB/Swiss-Prot), B5M451 (UniProtKB/Swiss-Prot), B5M449 (UniProtKB/Swiss-Prot), B2CI53 (UniProtKB/Swiss-Prot), A6NIA8 (UniProtKB/Swiss-Prot), Q9UIB9 (UniProtKB/Swiss-Prot), Q9Y6M7 (UniProtKB/Swiss-Prot), B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001245308 ⟸ NM_001258379 |
- Peptide Label: | isoform b |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001245309 ⟸ NM_001258380 |
- Peptide Label: | isoform c |
- UniProtKB: | C9JRP1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005265657 ⟸ XM_005265600 |
- Peptide Label: | isoform X10 |
- UniProtKB: | C9JRP1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005265655 ⟸ XM_005265598 |
- Peptide Label: | isoform X7 |
- UniProtKB: | C9JRP1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006713484 ⟸ XM_006713421 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011532565 ⟸ XM_011534263 |
- Peptide Label: | isoform X8 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011532567 ⟸ XM_011534265 |
- Peptide Label: | isoform X11 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011532560 ⟸ XM_011534258 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011532563 ⟸ XM_011534261 |
- Peptide Label: | isoform X5 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011532558 ⟸ XM_011534256 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308035 ⟸ NM_001321106 |
- Peptide Label: | isoform g |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308036 ⟸ NM_001321107 |
- Peptide Label: | isoform h |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308034 ⟸ NM_001321105 |
- Peptide Label: | isoform f |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL), E9PFN4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308033 ⟸ NM_001321104 |
- Peptide Label: | isoform e |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308037 ⟸ NM_001321108 |
- Peptide Label: | isoform i |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308032 ⟸ NM_001321103 |
- Peptide Label: | isoform d |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016863018 ⟸ XM_017007529 |
- Peptide Label: | isoform X12 |
- UniProtKB: | H7C3C4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016863017 ⟸ XM_017007528 |
- Peptide Label: | isoform X12 |
- UniProtKB: | H7C3C4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016863016 ⟸ XM_017007527 |
- Peptide Label: | isoform X9 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000407304 ⟸ ENST00000438530 |
Ensembl Acc Id: | ENSP00000401949 ⟸ ENST00000425128 |
Ensembl Acc Id: | ENSP00000295736 ⟸ ENST00000295736 |
Ensembl Acc Id: | ENSP00000388703 ⟸ ENST00000428179 |
Ensembl Acc Id: | ENSP00000416368 ⟸ ENST00000428386 |
Ensembl Acc Id: | ENSP00000390394 ⟸ ENST00000454389 |
Ensembl Acc Id: | ENSP00000414797 ⟸ ENST00000440156 |
Ensembl Acc Id: | ENSP00000407382 ⟸ ENST00000455077 |
Ensembl Acc Id: | ENSP00000408323 ⟸ ENST00000457377 |
Ensembl Acc Id: | ENSP00000411031 ⟸ ENST00000419036 |
Ensembl Acc Id: | ENSP00000406804 ⟸ ENST00000445684 |
Ensembl Acc Id: | ENSP00000406605 ⟸ ENST00000446700 |
Ensembl Acc Id: | ENSP00000394252 ⟸ ENST00000437179 |
Ensembl Acc Id: | ENSP00000409418 ⟸ ENST00000437266 |
RefSeq Acc Id: | XP_047305202 ⟸ XM_047449246 |
- Peptide Label: | isoform X3 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047305203 ⟸ XM_047449247 |
- Peptide Label: | isoform X6 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047305204 ⟸ XM_047449248 |
- Peptide Label: | isoform X13 |
RefSeq Acc Id: | XP_054204439 ⟸ XM_054348464 |
- Peptide Label: | isoform X9 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054204433 ⟸ XM_054348458 |
- Peptide Label: | isoform X3 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054204431 ⟸ XM_054348456 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054204438 ⟸ XM_054348463 |
- Peptide Label: | isoform X8 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054204441 ⟸ XM_054348466 |
- Peptide Label: | isoform X11 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054204434 ⟸ XM_054348459 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054204436 ⟸ XM_054348461 |
- Peptide Label: | isoform X6 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054204440 ⟸ XM_054348465 |
- Peptide Label: | isoform X10 |
- UniProtKB: | C9JRP1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054204435 ⟸ XM_054348460 |
- Peptide Label: | isoform X5 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054204437 ⟸ XM_054348462 |
- Peptide Label: | isoform X7 |
- UniProtKB: | C9JRP1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054204432 ⟸ XM_054348457 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B5M450 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054204443 ⟸ XM_054348468 |
- Peptide Label: | isoform X12 |
- UniProtKB: | H7C3C4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054204442 ⟸ XM_054348467 |
- Peptide Label: | isoform X12 |
- UniProtKB: | H7C3C4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054204444 ⟸ XM_054348469 |
- Peptide Label: | isoform X13 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9Y6M7-F1-model_v2 | AlphaFold | Q9Y6M7 | 1-1214 | view protein structure |
RGD ID: | 6863884 | ||||||||
Promoter ID: | EPDNEW_H5083 | ||||||||
Type: | initiation region | ||||||||
Name: | SLC4A7_2 | ||||||||
Description: | solute carrier family 4 member 7 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H5084 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6863838 | ||||||||
Promoter ID: | EPDNEW_H5084 | ||||||||
Type: | initiation region | ||||||||
Name: | SLC4A7_1 | ||||||||
Description: | solute carrier family 4 member 7 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H5083 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:11033 | AgrOrtholog |
COSMIC | SLC4A7 | COSMIC |
Ensembl Genes | ENSG00000033867 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000295736 | ENTREZGENE |
ENST00000295736.9 | UniProtKB/Swiss-Prot | |
ENST00000419036 | ENTREZGENE | |
ENST00000419036.5 | UniProtKB/TrEMBL | |
ENST00000428179.1 | UniProtKB/TrEMBL | |
ENST00000428386 | ENTREZGENE | |
ENST00000428386.5 | UniProtKB/Swiss-Prot | |
ENST00000437179 | ENTREZGENE | |
ENST00000437179.5 | UniProtKB/Swiss-Prot | |
ENST00000437266 | ENTREZGENE | |
ENST00000437266.5 | UniProtKB/Swiss-Prot | |
ENST00000438530.5 | UniProtKB/Swiss-Prot | |
ENST00000440156 | ENTREZGENE | |
ENST00000440156.5 | UniProtKB/Swiss-Prot | |
ENST00000445684 | ENTREZGENE | |
ENST00000445684.5 | UniProtKB/TrEMBL | |
ENST00000446700 | ENTREZGENE | |
ENST00000446700.5 | UniProtKB/Swiss-Prot | |
ENST00000454389 | ENTREZGENE | |
ENST00000454389.6 | UniProtKB/Swiss-Prot | |
ENST00000455077 | ENTREZGENE | |
ENST00000455077.5 | UniProtKB/Swiss-Prot | |
ENST00000457377.5 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Helical hairpin bin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000033867 | GTEx |
HGNC ID | HGNC:11033 | ENTREZGENE |
Human Proteome Map | SLC4A7 | Human Proteome Map |
InterPro | Band3_cytoplasmic_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
HCO3_transpt_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
HCO3_transpt_euk | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Na/HCO3_transpt | UniProtKB/TrEMBL | |
PTrfase/Anion_transptr | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:9497 | UniProtKB/Swiss-Prot |
NCBI Gene | 9497 | ENTREZGENE |
OMIM | 603353 | OMIM |
PANTHER | PTHR11453 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SODIUM BICARBONATE COTRANSPORTER 3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Band_3_cyto | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
HCO3_cotransp | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA35899 | PharmGKB |
PRINTS | HCO3TRNSPORT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NAHCO3TRSPRT | UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF55804 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A6NIA8 | ENTREZGENE |
B2CI53 | ENTREZGENE | |
B5M449 | ENTREZGENE | |
B5M450 | ENTREZGENE, UniProtKB/TrEMBL | |
B5M451 | ENTREZGENE | |
B5M452 | ENTREZGENE | |
B5M453 | ENTREZGENE | |
B6DY52 | ENTREZGENE | |
B6DY53 | ENTREZGENE | |
C9JRP1 | ENTREZGENE, UniProtKB/TrEMBL | |
C9JST9 | ENTREZGENE | |
D3K174 | ENTREZGENE | |
D3K175 | ENTREZGENE | |
E9PFN4 | ENTREZGENE, UniProtKB/TrEMBL | |
H7C3C4 | ENTREZGENE, UniProtKB/TrEMBL | |
O60350 | ENTREZGENE | |
Q6AHZ9 | ENTREZGENE | |
Q9HC88 | ENTREZGENE | |
Q9UIB9 | ENTREZGENE | |
Q9Y6M7 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | A6NIA8 | UniProtKB/Swiss-Prot |
B2CI53 | UniProtKB/Swiss-Prot | |
B5M449 | UniProtKB/Swiss-Prot | |
B5M451 | UniProtKB/Swiss-Prot | |
B5M452 | UniProtKB/Swiss-Prot | |
B5M453 | UniProtKB/Swiss-Prot | |
B6DY52 | UniProtKB/Swiss-Prot | |
B6DY53 | UniProtKB/Swiss-Prot | |
C9JST9 | UniProtKB/Swiss-Prot | |
D3K174 | UniProtKB/Swiss-Prot | |
D3K175 | UniProtKB/Swiss-Prot | |
O60350 | UniProtKB/Swiss-Prot | |
Q6AHZ9 | UniProtKB/Swiss-Prot | |
Q9HC88 | UniProtKB/Swiss-Prot | |
Q9UIB9 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-23 | SLC4A7 | solute carrier family 4 member 7 | SLC4A7 | solute carrier family 4, sodium bicarbonate cotransporter, member 7 | Symbol and/or name change | 5135510 | APPROVED |