Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | heart disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16844662 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | heart disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16844662 | |
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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:2686841 | PMID:7923606 | PMID:8001971 | PMID:8227202 | PMID:10362722 | PMID:10732805 | PMID:11208611 | PMID:11248201 | PMID:11606574 | PMID:11739292 | PMID:11842009 | PMID:11875255 |
PMID:11875273 | PMID:11994299 | PMID:12027221 | PMID:12477932 | PMID:19605733 | PMID:19854014 | PMID:21873635 | PMID:22576912 | PMID:24811271 | PMID:27211793 | PMID:28298427 | PMID:29167417 |
PMID:30021884 | PMID:30280653 | PMID:30652415 | PMID:32296183 | PMID:32513696 | PMID:35914814 | PMID:36806574 |
SLC4A3 (Homo sapiens - human) |
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Slc4a3 (Mus musculus - house mouse) |
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Slc4a3 (Rattus norvegicus - Norway rat) |
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Slc4a3 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC4A3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC4A3 (Canis lupus familiaris - dog) |
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Slc4a3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC4A3 (Sus scrofa - pig) |
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SLC4A3 (Chlorocebus sabaeus - green monkey) |
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Slc4a3 (Heterocephalus glaber - naked mole-rat) |
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Variants in SLC4A3
78 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 | copy number gain | See cases [RCV000051119] | Chr2:194898783..236473913 [GRCh38] Chr2:195763507..237382556 [GRCh37] Chr2:195471752..237047295 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 | copy number loss | See cases [RCV000052634] | Chr2:219081620..225430308 [GRCh38] Chr2:219946342..226295024 [GRCh37] Chr2:219654586..226003268 [NCBI36] Chr2:2q35-36.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 | copy number gain | See cases [RCV000052958] | Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 | copy number gain | See cases [RCV000052959] | Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] | Chr2:193122313..241074980 [GRCh38] Chr2:193987039..242014395 [GRCh37] Chr2:193695284..241663068 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] | Chr2:212614422..227121230 [GRCh38] Chr2:213479146..227985946 [GRCh37] Chr2:213187391..227694190 [NCBI36] Chr2:2q34-36.3 |
pathogenic |
GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|See cases [RCV000052965] | Chr2:219547204..228287942 [GRCh38] Chr2:220411926..229152658 [GRCh37] Chr2:220120170..228860902 [NCBI36] Chr2:2q35-36.3 |
pathogenic |
NM_005070.3(SLC4A3):c.2805C>T (p.Ser935=) | single nucleotide variant | Malignant melanoma [RCV000060499] | Chr2:219638202 [GRCh38] Chr2:220502924 [GRCh37] Chr2:220211168 [NCBI36] Chr2:2q35 |
not provided |
NM_005070.4(SLC4A3):c.146A>G (p.Asp49Gly) | single nucleotide variant | not provided [RCV000054740] | Chr2:219628499 [GRCh38] Chr2:220493221 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.2233G>A (p.Val745Met) | single nucleotide variant | Inborn genetic diseases [RCV002514276]|not provided [RCV000054741] | Chr2:219636343 [GRCh38] Chr2:220501065 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.2784G>A (p.Gly928=) | single nucleotide variant | not provided [RCV000054742] | Chr2:219638181 [GRCh38] Chr2:220502903 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.3066C>T (p.Ser1022=) | single nucleotide variant | not provided [RCV000054743] | Chr2:219639524 [GRCh38] Chr2:220504246 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.371C>T (p.Pro124Leu) | single nucleotide variant | not provided [RCV000054744] | Chr2:219629297 [GRCh38] Chr2:220494019 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.664C>A (p.Pro222Thr) | single nucleotide variant | not provided [RCV000054745] | Chr2:219630205 [GRCh38] Chr2:220494927 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.681C>T (p.Ala227=) | single nucleotide variant | not provided [RCV000054746] | Chr2:219630222 [GRCh38] Chr2:220494944 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 | copy number gain | See cases [RCV000135934] | Chr2:210579676..242126245 [GRCh38] Chr2:211444400..243059659 [GRCh37] Chr2:211152645..242717069 [NCBI36] Chr2:2q34-37.3 |
pathogenic |
GRCh38/hg38 2q35(chr2:219081620-219758878)x3 | copy number gain | See cases [RCV000138093] | Chr2:219081620..219758878 [GRCh38] Chr2:219946342..220623600 [GRCh37] Chr2:219654586..220331844 [NCBI36] Chr2:2q35 |
uncertain significance |
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 | copy number gain | See cases [RCV000139446] | Chr2:180513793..224302848 [GRCh38] Chr2:181378520..225167565 [GRCh37] Chr2:181086765..224875809 [NCBI36] Chr2:2q31.3-36.2 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 | copy number gain | See cases [RCV000142307] | Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 | copy number gain | See cases [RCV000143216] | Chr2:218101759..242126245 [GRCh38] Chr2:218966482..243059659 [GRCh37] Chr2:218674727..242717069 [NCBI36] Chr2:2q35-37.3 |
pathogenic |
NM_005070.4(SLC4A3):c.2774G>A (p.Arg925His) | single nucleotide variant | Inborn genetic diseases [RCV000623901] | Chr2:219638171 [GRCh38] Chr2:220502893 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 | copy number gain | See cases [RCV000448049] | Chr2:219966808..237815985 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) | copy number gain | See cases [RCV000512056] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 | copy number gain | See cases [RCV000512009] | Chr2:213518431..242783384 [GRCh37] Chr2:2q34-37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 | copy number gain | See cases [RCV000511212] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_005070.4(SLC4A3):c.2522A>G (p.Tyr841Cys) | single nucleotide variant | Inborn genetic diseases [RCV003299746] | Chr2:219636861 [GRCh38] Chr2:220501583 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.2242G>A (p.Ala748Thr) | single nucleotide variant | Inborn genetic diseases [RCV003273410] | Chr2:219636352 [GRCh38] Chr2:220501074 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.2410G>A (p.Val804Ile) | single nucleotide variant | Inborn genetic diseases [RCV003245390] | Chr2:219636749 [GRCh38] Chr2:220501471 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 | copy number loss | not provided [RCV000585275] | Chr2:217374144..227643620 [GRCh37] Chr2:2q35-36.3 |
likely pathogenic |
NM_005070.4(SLC4A3):c.2459C>T (p.Ser820Leu) | single nucleotide variant | Inborn genetic diseases [RCV000622776] | Chr2:219636798 [GRCh38] Chr2:220501520 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 | copy number gain | not provided [RCV000682170] | Chr2:219225872..242016876 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 | copy number loss | not provided [RCV000682163] | Chr2:218813434..227450699 [GRCh37] Chr2:2q35-36.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
Single allele | deletion | Polydactyly [RCV000736029] | Chr2:219925666..220914504 [GRCh37] Chr2:2q35 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 | copy number gain | not provided [RCV000752802] | Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
Single allele | duplication | Neurodevelopmental disorder [RCV000787403] | Chr2:188926928..225298653 [GRCh37] Chr2:2q32.1-36.2 |
pathogenic |
NM_005070.4(SLC4A3):c.3391T>C (p.Leu1131=) | single nucleotide variant | not provided [RCV001643489] | Chr2:219640543 [GRCh38] Chr2:220505265 [GRCh37] Chr2:2q35 |
benign |
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 | copy number gain | See cases [RCV000790568] | Chr2:210779657..239879183 [GRCh37] Chr2:2q34-37.3 |
pathogenic |
NM_005070.4(SLC4A3):c.2599G>C (p.Asp867His) | single nucleotide variant | not provided [RCV000951063] | Chr2:219637644 [GRCh38] Chr2:220502366 [GRCh37] Chr2:2q35 |
benign |
NM_005070.4(SLC4A3):c.2004= (p.Ala668=) | variation | not provided [RCV000948635] | Chr2:219635704 [GRCh38] Chr2:220500426 [GRCh37] Chr2:2q35 |
benign |
NM_005070.4(SLC4A3):c.2250C>T (p.Leu750=) | single nucleotide variant | not provided [RCV000946683] | Chr2:219636360 [GRCh38] Chr2:220501082 [GRCh37] Chr2:2q35 |
benign |
NM_005070.4(SLC4A3):c.1248C>T (p.Ser416=) | single nucleotide variant | SLC4A3-related condition [RCV003925971]|not provided [RCV000953188] | Chr2:219632980 [GRCh38] Chr2:220497702 [GRCh37] Chr2:2q35 |
benign|likely benign |
NM_005070.4(SLC4A3):c.1323A>G (p.Pro441=) | single nucleotide variant | not provided [RCV000918831] | Chr2:219633319 [GRCh38] Chr2:220498041 [GRCh37] Chr2:2q35 |
likely benign |
NM_005070.4(SLC4A3):c.1461+171G>C | single nucleotide variant | not provided [RCV001710027] | Chr2:219633628 [GRCh38] Chr2:220498350 [GRCh37] Chr2:2q35 |
benign |
NM_005070.4(SLC4A3):c.1973-74C>G | single nucleotide variant | not provided [RCV001669214] | Chr2:219635599 [GRCh38] Chr2:220500321 [GRCh37] Chr2:2q35 |
benign |
NM_005070.4(SLC4A3):c.3498C>T (p.Ile1166=) | single nucleotide variant | not provided [RCV000954390] | Chr2:219640839 [GRCh38] Chr2:220505561 [GRCh37] Chr2:2q35 |
likely benign |
NM_005070.4(SLC4A3):c.161C>T (p.Pro54Leu) | single nucleotide variant | not provided [RCV000956049] | Chr2:219628514 [GRCh38] Chr2:220493236 [GRCh37] Chr2:2q35 |
benign |
NM_005070.4(SLC4A3):c.2640C>T (p.Thr880=) | single nucleotide variant | not provided [RCV000956051] | Chr2:219637685 [GRCh38] Chr2:220502407 [GRCh37] Chr2:2q35 |
benign |
NM_005070.4(SLC4A3):c.2223C>T (p.Ser741=) | single nucleotide variant | not provided [RCV000956050] | Chr2:219636333 [GRCh38] Chr2:220501055 [GRCh37] Chr2:2q35 |
benign |
NM_005070.4(SLC4A3):c.1684A>G (p.Ser562Gly) | single nucleotide variant | Inborn genetic diseases [RCV002901101] | Chr2:219634542 [GRCh38] Chr2:220499264 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.2192-194G>C | single nucleotide variant | not provided [RCV001595434] | Chr2:219636108 [GRCh38] Chr2:220500830 [GRCh37] Chr2:2q35 |
benign |
NM_005070.4(SLC4A3):c.2536-260T>C | single nucleotide variant | not provided [RCV001689408] | Chr2:219637321 [GRCh38] Chr2:220502043 [GRCh37] Chr2:2q35 |
benign |
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 | copy number gain | not provided [RCV001007510] | Chr2:216883237..220953003 [GRCh37] Chr2:2q35 |
pathogenic |
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 | copy number gain | See cases [RCV001263052] | Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3 |
pathogenic |
GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1 | copy number loss | not provided [RCV001537914] | Chr2:220056891..227164817 [GRCh37] Chr2:2q35-36.3 |
pathogenic |
NM_005070.4(SLC4A3):c.*72G>A | single nucleotide variant | not provided [RCV001530833] | Chr2:219641800 [GRCh38] Chr2:220506522 [GRCh37] Chr2:2q35 |
benign |
NM_005070.4(SLC4A3):c.811+93A>C | single nucleotide variant | not provided [RCV001690798] | Chr2:219630445 [GRCh38] Chr2:220495167 [GRCh37] Chr2:2q35 |
benign |
NM_005070.4(SLC4A3):c.3448-90C>T | single nucleotide variant | not provided [RCV001652614] | Chr2:219640699 [GRCh38] Chr2:220505421 [GRCh37] Chr2:2q35 |
benign |
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) | copy number loss | not specified [RCV002053285] | Chr2:219606537..239217703 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) | copy number gain | not specified [RCV002053282] | Chr2:215108009..221679980 [GRCh37] Chr2:2q34-36.1 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) | copy number gain | Mosaic trisomy 2 [RCV002280628] | Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_005070.4(SLC4A3):c.569C>T (p.Ser190Leu) | single nucleotide variant | Inborn genetic diseases [RCV003257266] | Chr2:219629653 [GRCh38] Chr2:220494375 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.1594G>A (p.Ala532Thr) | single nucleotide variant | Inborn genetic diseases [RCV002774701] | Chr2:219634452 [GRCh38] Chr2:220499174 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.352C>T (p.Pro118Ser) | single nucleotide variant | Inborn genetic diseases [RCV002732519] | Chr2:219629278 [GRCh38] Chr2:220494000 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.3224T>G (p.Ile1075Ser) | single nucleotide variant | Inborn genetic diseases [RCV002728701] | Chr2:219639682 [GRCh38] Chr2:220504404 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.1135G>A (p.Ala379Thr) | single nucleotide variant | Inborn genetic diseases [RCV002816779] | Chr2:219632436 [GRCh38] Chr2:220497158 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.950G>C (p.Arg317Thr) | single nucleotide variant | Inborn genetic diseases [RCV002901469] | Chr2:219632106 [GRCh38] Chr2:220496828 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.1106G>A (p.Arg369His) | single nucleotide variant | Inborn genetic diseases [RCV002864267] | Chr2:219632407 [GRCh38] Chr2:220497129 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.2330C>G (p.Ala777Gly) | single nucleotide variant | Inborn genetic diseases [RCV002778335] | Chr2:219636440 [GRCh38] Chr2:220501162 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.2102G>A (p.Arg701Gln) | single nucleotide variant | Inborn genetic diseases [RCV002778795] | Chr2:219635802 [GRCh38] Chr2:220500524 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.2003C>T (p.Ala668Val) | single nucleotide variant | Inborn genetic diseases [RCV002946208] | Chr2:219635703 [GRCh38] Chr2:220500425 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.3311G>A (p.Arg1104Gln) | single nucleotide variant | Inborn genetic diseases [RCV002779325] | Chr2:219640463 [GRCh38] Chr2:220505185 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.200G>A (p.Ser67Asn) | single nucleotide variant | Inborn genetic diseases [RCV002737241] | Chr2:219628553 [GRCh38] Chr2:220493275 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.1933G>A (p.Glu645Lys) | single nucleotide variant | Inborn genetic diseases [RCV002952268]|SLC4A3-related condition [RCV003410212] | Chr2:219635457 [GRCh38] Chr2:220500179 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.1807G>A (p.Glu603Lys) | single nucleotide variant | Inborn genetic diseases [RCV002977792] | Chr2:219635331 [GRCh38] Chr2:220500053 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.646G>A (p.Ala216Thr) | single nucleotide variant | Inborn genetic diseases [RCV002693432] | Chr2:219630187 [GRCh38] Chr2:220494909 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.2935C>T (p.Arg979Cys) | single nucleotide variant | Inborn genetic diseases [RCV002738754] | Chr2:219638781 [GRCh38] Chr2:220503503 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.612-44G>A | single nucleotide variant | Inborn genetic diseases [RCV002739388] | Chr2:219630109 [GRCh38] Chr2:220494831 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.469C>T (p.His157Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002797427] | Chr2:219629395 [GRCh38] Chr2:220494117 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.619A>C (p.Ser207Arg) | single nucleotide variant | Inborn genetic diseases [RCV002765126] | Chr2:219630160 [GRCh38] Chr2:220494882 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.1781G>A (p.Arg594Gln) | single nucleotide variant | Inborn genetic diseases [RCV002640792] | Chr2:219635305 [GRCh38] Chr2:220500027 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.1343C>T (p.Ser448Leu) | single nucleotide variant | Inborn genetic diseases [RCV002664681] | Chr2:219633339 [GRCh38] Chr2:220498061 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.541A>G (p.Arg181Gly) | single nucleotide variant | Inborn genetic diseases [RCV002921528] | Chr2:219629625 [GRCh38] Chr2:220494347 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.880G>A (p.Gly294Arg) | single nucleotide variant | Inborn genetic diseases [RCV002941041] | Chr2:219632036 [GRCh38] Chr2:220496758 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.3269G>C (p.Ser1090Thr) | single nucleotide variant | Inborn genetic diseases [RCV002941453] | Chr2:219639727 [GRCh38] Chr2:220504449 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.74C>G (p.Pro25Arg) | single nucleotide variant | Inborn genetic diseases [RCV002988907] | Chr2:219628427 [GRCh38] Chr2:220493149 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.733G>C (p.Gly245Arg) | single nucleotide variant | Inborn genetic diseases [RCV002769928] | Chr2:219630274 [GRCh38] Chr2:220494996 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.917G>A (p.Arg306His) | single nucleotide variant | Inborn genetic diseases [RCV002674301] | Chr2:219632073 [GRCh38] Chr2:220496795 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.2680C>G (p.Leu894Val) | single nucleotide variant | Inborn genetic diseases [RCV002808878] | Chr2:219637725 [GRCh38] Chr2:220502447 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.1288G>A (p.Asp430Asn) | single nucleotide variant | Inborn genetic diseases [RCV002656594] | Chr2:219633284 [GRCh38] Chr2:220498006 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.1028G>A (p.Arg343His) | single nucleotide variant | Short QT syndrome 7 [RCV003152490] | Chr2:219632329 [GRCh38] Chr2:220497051 [GRCh37] Chr2:2q35 |
pathogenic |
NM_005070.4(SLC4A3):c.23C>T (p.Pro8Leu) | single nucleotide variant | Inborn genetic diseases [RCV003200285] | Chr2:219628015 [GRCh38] Chr2:220492737 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.2039C>T (p.Ser680Leu) | single nucleotide variant | Inborn genetic diseases [RCV003179101] | Chr2:219635739 [GRCh38] Chr2:220500461 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.3460C>T (p.Arg1154Trp) | single nucleotide variant | Inborn genetic diseases [RCV003213234] | Chr2:219640801 [GRCh38] Chr2:220505523 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.612-22G>A | single nucleotide variant | Inborn genetic diseases [RCV003215424] | Chr2:219630131 [GRCh38] Chr2:220494853 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.672C>G (p.Ser224Arg) | single nucleotide variant | Inborn genetic diseases [RCV003178012] | Chr2:219630213 [GRCh38] Chr2:220494935 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.2641G>A (p.Glu881Lys) | single nucleotide variant | Inborn genetic diseases [RCV003201888] | Chr2:219637686 [GRCh38] Chr2:220502408 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.262C>T (p.Arg88Cys) | single nucleotide variant | Inborn genetic diseases [RCV003265314] | Chr2:219629188 [GRCh38] Chr2:220493910 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 | copy number gain | See cases [RCV003329558] | Chr2:186698504..223918111 [GRCh37] Chr2:2q32.1-36.1 |
pathogenic |
NM_005070.4(SLC4A3):c.466C>A (p.Pro156Thr) | single nucleotide variant | Inborn genetic diseases [RCV003371505] | Chr2:219629392 [GRCh38] Chr2:220494114 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.3203C>T (p.Ala1068Val) | single nucleotide variant | Inborn genetic diseases [RCV003386689] | Chr2:219639661 [GRCh38] Chr2:220504383 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.3537C>T (p.Leu1179=) | single nucleotide variant | Inborn genetic diseases [RCV003350490] | Chr2:219640878 [GRCh38] Chr2:220505600 [GRCh37] Chr2:2q35 |
likely benign |
NM_005070.4(SLC4A3):c.2033C>T (p.Thr678Met) | single nucleotide variant | Inborn genetic diseases [RCV003355069] | Chr2:219635733 [GRCh38] Chr2:220500455 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh37/hg19 2q35(chr2:220169575-220625221)x3 | copy number gain | not provided [RCV003484089] | Chr2:220169575..220625221 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh37/hg19 2q35(chr2:220368252-221475943)x3 | copy number gain | not provided [RCV003484090] | Chr2:220368252..221475943 [GRCh37] Chr2:2q35 |
uncertain significance |
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 | copy number gain | not provided [RCV003484087] | Chr2:218376403..242783384 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
NM_005070.4(SLC4A3):c.1456A>G (p.Lys486Glu) | single nucleotide variant | Short QT syndrome 7 [RCV003448638] | Chr2:219633452 [GRCh38] Chr2:220498174 [GRCh37] Chr2:2q35 |
uncertain significance |
NM_005070.4(SLC4A3):c.218-5C>T | single nucleotide variant | not provided [RCV003440192] | Chr2:219629139 [GRCh38] Chr2:220493861 [GRCh37] Chr2:2q35 |
likely benign |
NM_005070.4(SLC4A3):c.360C>T (p.Ser120=) | single nucleotide variant | SLC4A3-related condition [RCV003938979]|not provided [RCV003440193] | Chr2:219629286 [GRCh38] Chr2:220494008 [GRCh37] Chr2:2q35 |
likely benign |
NM_005070.4(SLC4A3):c.1839G>A (p.Pro613=) | single nucleotide variant | not provided [RCV003440194] | Chr2:219635363 [GRCh38] Chr2:220500085 [GRCh37] Chr2:2q35 |
likely benign |
NM_005070.4(SLC4A3):c.1990G>A (p.Gly664Arg) | single nucleotide variant | SLC4A3-related condition [RCV003939861] | Chr2:219635690 [GRCh38] Chr2:220500412 [GRCh37] Chr2:2q35 |
likely benign |
NM_005070.4(SLC4A3):c.1610A>G (p.Asn537Ser) | single nucleotide variant | SLC4A3-related condition [RCV003949505] | Chr2:219634468 [GRCh38] Chr2:220499190 [GRCh37] Chr2:2q35 |
likely benign |
NM_005070.4(SLC4A3):c.2232C>T (p.Ile744=) | single nucleotide variant | SLC4A3-related condition [RCV003929614] | Chr2:219636342 [GRCh38] Chr2:220501064 [GRCh37] Chr2:2q35 |
likely benign |
NM_005070.4(SLC4A3):c.310C>T (p.Arg104Trp) | single nucleotide variant | SLC4A3-related condition [RCV003933813] | Chr2:219629236 [GRCh38] Chr2:220493958 [GRCh37] Chr2:2q35 |
likely benign |
NM_005070.4(SLC4A3):c.2781C>A (p.Ile927=) | single nucleotide variant | SLC4A3-related condition [RCV003917248] | Chr2:219638178 [GRCh38] Chr2:220502900 [GRCh37] Chr2:2q35 |
likely benign |
NM_005070.4(SLC4A3):c.394G>A (p.Ala132Thr) | single nucleotide variant | Inborn genetic diseases [RCV003339408] | Chr2:219629320 [GRCh38] Chr2:220494042 [GRCh37] Chr2:2q35 |
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. |
ECD00498 |
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ECD00973 |
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ECD22023 |
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ECD23637 |
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REN53635 |
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REN53664 |
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REN53665 |
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REN53666 |
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REN53667 |
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REN53668 |
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REN53669 |
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REN53670 |
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REN53671 |
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REN53672 |
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REN53674 |
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REN53675 |
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REN53676 |
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REN53677 |
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REN53678 |
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REN53679 |
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REN53680 |
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REN53704 |
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D2S2848 |
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stSG633139 |
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stSG633145 |
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stSG633146 |
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stSG633147 |
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stSG633148 |
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stSG633149 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 879 | 973 | 579 | 42 | 22 | 30 | 451 | 1230 | 3051 | 61 | 1145 | 142 | 23 | 232 | 348 | 1 |
Low | 1376 | 1348 | 796 | 235 | 563 | 89 | 3585 | 654 | 657 | 314 | 292 | 1441 | 148 | 969 | 2136 | 2 |
Below cutoff | 167 | 655 | 321 | 316 | 898 | 316 | 319 | 305 | 6 | 42 | 13 | 22 | 1 | 3 | 304 | 1 |
RefSeq Transcripts | NG_050748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001326559 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_005070 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_201574 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_048551 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005246790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011511665 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011511667 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047445555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047445556 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047445557 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054343463 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054343464 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054343465 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054343466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054343467 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054343468 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC009955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF017308 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK226122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK289974 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK299109 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK299595 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309025 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY142112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC136384 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC146656 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC171760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF459589 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L27213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U05596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U05597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X70797 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X87211 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000273063 ⟹ ENSP00000273063 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000317151 ⟹ ENSP00000314006 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000358055 ⟹ ENSP00000350756 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000373760 ⟹ ENSP00000362865 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000413743 ⟹ ENSP00000414722 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000416910 ⟹ ENSP00000403160 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000425141 ⟹ ENSP00000396863 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000444906 ⟹ ENSP00000398628 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000497589 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001326559 ⟹ NP_001313488 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_005070 ⟹ NP_005061 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_201574 ⟹ NP_963868 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_048551 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005246790 ⟹ XP_005246847 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011511665 ⟹ XP_011509967 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011511667 ⟹ XP_011509969 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047445555 ⟹ XP_047301511 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047445556 ⟹ XP_047301512 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047445557 ⟹ XP_047301513 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054343463 ⟹ XP_054199438 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054343464 ⟹ XP_054199439 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054343465 ⟹ XP_054199440 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054343466 ⟹ XP_054199441 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054343467 ⟹ XP_054199442 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054343468 ⟹ XP_054199443 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001313488 | (Get FASTA) | NCBI Sequence Viewer |
NP_005061 | (Get FASTA) | NCBI Sequence Viewer | |
NP_963868 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005246847 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011509967 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011509969 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047301511 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047301512 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047301513 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054199438 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054199439 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054199440 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054199441 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054199442 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054199443 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA50748 | (Get FASTA) | NCBI Sequence Viewer |
AAA50749 | (Get FASTA) | NCBI Sequence Viewer | |
AAB05850 | (Get FASTA) | NCBI Sequence Viewer | |
AAI36385 | (Get FASTA) | NCBI Sequence Viewer | |
AAI46657 | (Get FASTA) | NCBI Sequence Viewer | |
AAI71760 | (Get FASTA) | NCBI Sequence Viewer | |
AAN34939 | (Get FASTA) | NCBI Sequence Viewer | |
BAF82663 | (Get FASTA) | NCBI Sequence Viewer | |
BAG61165 | (Get FASTA) | NCBI Sequence Viewer | |
BAG61527 | (Get FASTA) | NCBI Sequence Viewer | |
CAA50067 | (Get FASTA) | NCBI Sequence Viewer | |
CAA60670 | (Get FASTA) | NCBI Sequence Viewer | |
EAW70777 | (Get FASTA) | NCBI Sequence Viewer | |
EAW70778 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000273063 | ||
ENSP00000273063.6 | |||
ENSP00000314006 | |||
ENSP00000314006.3 | |||
ENSP00000350756 | |||
ENSP00000350756.3 | |||
ENSP00000362865.2 | |||
ENSP00000396863.1 | |||
ENSP00000398628.1 | |||
ENSP00000403160.1 | |||
ENSP00000414722.1 | |||
GenBank Protein | P48751 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_005061 ⟸ NM_005070 |
- Peptide Label: | isoform 1 |
- UniProtKB: | P48751 (UniProtKB/Swiss-Prot), B9EGD1 (UniProtKB/Swiss-Prot), B7ZVX6 (UniProtKB/Swiss-Prot), A8K1Q9 (UniProtKB/Swiss-Prot), A6H8L2 (UniProtKB/Swiss-Prot), Q6YIQ9 (UniProtKB/Swiss-Prot), B4DR53 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_963868 ⟸ NM_201574 |
- Peptide Label: | isoform 2 |
- UniProtKB: | B4DR53 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005246847 ⟸ XM_005246790 |
- Peptide Label: | isoform X3 |
- UniProtKB: | B4DR53 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011509967 ⟸ XM_011511665 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B4DR53 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011509969 ⟸ XM_011511667 |
- Peptide Label: | isoform X5 |
- UniProtKB: | B4DS65 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001313488 ⟸ NM_001326559 |
- Peptide Label: | isoform 2 |
- UniProtKB: | B4DR53 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000396863 ⟸ ENST00000425141 |
RefSeq Acc Id: | ENSP00000362865 ⟸ ENST00000373760 |
RefSeq Acc Id: | ENSP00000414722 ⟸ ENST00000413743 |
RefSeq Acc Id: | ENSP00000403160 ⟸ ENST00000416910 |
RefSeq Acc Id: | ENSP00000273063 ⟸ ENST00000273063 |
RefSeq Acc Id: | ENSP00000398628 ⟸ ENST00000444906 |
RefSeq Acc Id: | ENSP00000314006 ⟸ ENST00000317151 |
RefSeq Acc Id: | ENSP00000350756 ⟸ ENST00000358055 |
RefSeq Acc Id: | XP_047301511 ⟸ XM_047445555 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P48751 (UniProtKB/Swiss-Prot), B9EGD1 (UniProtKB/Swiss-Prot), B7ZVX6 (UniProtKB/Swiss-Prot), A8K1Q9 (UniProtKB/Swiss-Prot), A6H8L2 (UniProtKB/Swiss-Prot), Q6YIQ9 (UniProtKB/Swiss-Prot), B4DR53 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047301513 ⟸ XM_047445557 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B4DR53 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047301512 ⟸ XM_047445556 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B4DR53 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054199438 ⟸ XM_054343463 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DR53 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054199441 ⟸ XM_054343466 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B4DR53 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054199439 ⟸ XM_054343464 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B4DR53 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054199442 ⟸ XM_054343467 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B4DR53 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054199440 ⟸ XM_054343465 |
- Peptide Label: | isoform X3 |
- UniProtKB: | B4DR53 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054199443 ⟸ XM_054343468 |
- Peptide Label: | isoform X5 |
- UniProtKB: | B4DS65 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P48751-F1-model_v2 | AlphaFold | P48751 | 1-1232 | view protein structure |
RGD ID: | 6862936 | ||||||||
Promoter ID: | EPDNEW_H4633 | ||||||||
Type: | initiation region | ||||||||
Name: | SLC4A3_2 | ||||||||
Description: | solute carrier family 4 member 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H4634 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6862938 | ||||||||
Promoter ID: | EPDNEW_H4634 | ||||||||
Type: | initiation region | ||||||||
Name: | SLC4A3_1 | ||||||||
Description: | solute carrier family 4 member 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H4633 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:11029 | AgrOrtholog |
COSMIC | SLC4A3 | COSMIC |
Ensembl Genes | ENSG00000114923 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000273063 | ENTREZGENE |
ENST00000273063.10 | UniProtKB/Swiss-Prot | |
ENST00000317151 | ENTREZGENE | |
ENST00000317151.7 | UniProtKB/Swiss-Prot | |
ENST00000358055 | ENTREZGENE | |
ENST00000358055.8 | UniProtKB/Swiss-Prot | |
ENST00000373760.6 | UniProtKB/Swiss-Prot | |
ENST00000413743.5 | UniProtKB/TrEMBL | |
ENST00000416910.1 | UniProtKB/TrEMBL | |
ENST00000425141 | ENTREZGENE | |
ENST00000425141.5 | UniProtKB/TrEMBL | |
ENST00000444906.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | Helical hairpin bin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000114923 | GTEx |
HGNC ID | HGNC:11029 | ENTREZGENE |
Human Proteome Map | SLC4A3 | Human Proteome Map |
InterPro | Anion_exchange | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Anion_exchange_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Anion_exchange_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Band3_cytoplasmic_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
HCO3_transpt-like_TM_dom | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot | |
HCO3_transpt_euk | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PTrfase/Anion_transptr | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:6508 | UniProtKB/Swiss-Prot |
NCBI Gene | 6508 | ENTREZGENE |
OMIM | 106195 | OMIM |
PANTHER | ANION EXCHANGE PROTEIN | UniProtKB/TrEMBL |
ANION EXCHANGE PROTEIN 3 | UniProtKB/TrEMBL | |
PTHR11453 | UniProtKB/Swiss-Prot | |
PTHR11453:SF15 | UniProtKB/Swiss-Prot | |
Pfam | Band_3_cyto | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
HCO3_cotransp | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA35897 | PharmGKB |
PRINTS | ANIONEXCHNGR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ANIONEXHNGR3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
HCO3TRNSPORT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | ANION_EXCHANGER_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ANION_EXCHANGER_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF55804 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A6H8L2 | ENTREZGENE |
A8K1Q9 | ENTREZGENE | |
B3A3_HUMAN | UniProtKB/Swiss-Prot | |
B4DR53 | ENTREZGENE, UniProtKB/TrEMBL | |
B4DS65 | ENTREZGENE, UniProtKB/TrEMBL | |
B7ZVX6 | ENTREZGENE | |
B9EGD1 | ENTREZGENE | |
E9PCP1_HUMAN | UniProtKB/TrEMBL | |
F8WD49_HUMAN | UniProtKB/TrEMBL | |
H7C160_HUMAN | UniProtKB/TrEMBL | |
H7C1Z2_HUMAN | UniProtKB/TrEMBL | |
P48751 | ENTREZGENE | |
Q6YIQ9 | ENTREZGENE | |
UniProt Secondary | A6H8L2 | UniProtKB/Swiss-Prot |
A8K1Q9 | UniProtKB/Swiss-Prot | |
B7ZVX6 | UniProtKB/Swiss-Prot | |
B9EGD1 | UniProtKB/Swiss-Prot | |
Q6YIQ9 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-23 | SLC4A3 | solute carrier family 4 member 3 | solute carrier family 4 (anion exchanger), member 3 | Symbol and/or name change | 5135510 | APPROVED | |
2013-07-23 | SLC4A3 | solute carrier family 4 (anion exchanger), member 3 | solute carrier family 4, anion exchanger, member 3 | Symbol and/or name change | 5135510 | APPROVED |