Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SLC14A1 | Human | autoimmune hemolytic anemia | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:6427987 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SLC14A1 | Human | autoimmune hemolytic anemia | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:6427987 | |
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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:2890568 | PMID:7797558 | PMID:7989337 | PMID:8573795 | PMID:8647271 | PMID:8997401 | PMID:9215669 | PMID:9582331 | PMID:9734652 | PMID:10514515 | PMID:10644814 | PMID:10653983 |
PMID:10942407 | PMID:11435423 | PMID:11807016 | PMID:11841450 | PMID:11852461 | PMID:12093813 | PMID:12477932 | PMID:14702039 | PMID:14985236 | PMID:15754970 | PMID:15783300 | PMID:16344560 |
PMID:18067501 | PMID:18510579 | PMID:18713105 | PMID:18997004 | PMID:19175544 | PMID:19865084 | PMID:19926813 | PMID:20379614 | PMID:20424473 | PMID:20431033 | PMID:20560530 | PMID:21309779 |
PMID:21750109 | PMID:21824976 | PMID:21873635 | PMID:22223368 | PMID:22733730 | PMID:22738189 | PMID:23486518 | PMID:23552862 | PMID:23698785 | PMID:23710545 | PMID:23754249 | PMID:23898208 |
PMID:24163127 | PMID:24376529 | PMID:24845979 | PMID:24877238 | PMID:25209859 | PMID:25218484 | PMID:25298342 | PMID:25298346 | PMID:25445116 | PMID:25807964 | PMID:26969102 | PMID:28503151 |
PMID:29279852 | PMID:30290033 | PMID:30964549 | PMID:31958845 | PMID:32296183 | PMID:33052246 | PMID:33231305 | PMID:33961781 | PMID:35156780 | PMID:36038817 | PMID:36257969 | PMID:37004669 |
PMID:38942821 | PMID:39061061 |
SLC14A1 (Homo sapiens - human) |
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Slc14a1 (Mus musculus - house mouse) |
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Slc14a1 (Rattus norvegicus - Norway rat) |
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Slc14a1 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC14A1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC14A1 (Canis lupus familiaris - dog) |
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Slc14a1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC14A1 (Sus scrofa - pig) |
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SLC14A1 (Chlorocebus sabaeus - green monkey) |
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Slc14a1 (Heterocephalus glaber - naked mole-rat) |
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Variants in SLC14A1
40 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_015865.7(SLC14A1):c.838G>A (p.Asp280Asn) | single nucleotide variant | KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b) [RCV000019290]|SLC14A1-related disorder [RCV003982843]|not provided [RCV004709199] | Chr18:45739554 [GRCh38] Chr18:43319519 [GRCh37] Chr18:18q12.3 |
benign |
NM_015865.7(SLC14A1):c.342-1G>A | single nucleotide variant | Jk-null variant [RCV000019291]|SLC14A1-related disorder [RCV003415719] | Chr18:45734273 [GRCh38] Chr18:43314238 [GRCh37] Chr18:18q12.3 |
pathogenic|likely pathogenic |
NM_015865.7(SLC14A1):c.663+1G>T | single nucleotide variant | Jk-null variant [RCV000019292] | Chr18:45736649 [GRCh38] Chr18:43316614 [GRCh37] Chr18:18q12.3 |
pathogenic |
NM_015865.7(SLC14A1):c.871T>C (p.Ser291Pro) | single nucleotide variant | Jk-null variant, finnish type [RCV000019293] | Chr18:45739587 [GRCh38] Chr18:43319552 [GRCh37] Chr18:18q12.3 |
pathogenic |
NM_015865.7(SLC14A1):c.-21-131_341+571del | deletion | Jk-null variant [RCV000019294] | Chr18:45730166..45731772 [GRCh38] Chr18:43310131..43311737 [GRCh37] Chr18:18q12.3 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 | copy number gain | See cases [RCV000051048] | Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 | copy number gain | See cases [RCV000052543] | Chr18:20960320..80234429 [GRCh38] Chr18:18540281..77992312 [GRCh37] Chr18:16794279..76093303 [NCBI36] Chr18:18q11.1-23 |
pathogenic |
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 | copy number gain | See cases [RCV000052549] | Chr18:20989762..80209986 [GRCh38] Chr18:18569723..77967869 [GRCh37] Chr18:16823721..76068860 [NCBI36] Chr18:18q11.1-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 | copy number gain | See cases [RCV000052501] | Chr18:53345..80209986 [GRCh38] Chr18:53345..77967869 [GRCh37] Chr18:43345..76068860 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 | copy number gain | See cases [RCV000052507] | Chr18:148763..80252290 [GRCh38] Chr18:148763..78010173 [GRCh37] Chr18:138763..76111164 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] | Chr18:29249202..65448117 [GRCh38] Chr18:26829167..63115353 [GRCh37] Chr18:25083165..61266333 [NCBI36] Chr18:18q12.1-22.1 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 | copy number gain | See cases [RCV000052514] | Chr18:148963..80244381 [GRCh38] Chr18:148963..78002264 [GRCh37] Chr18:138963..76103255 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.3-21.1(chr18:45541699-46697357)x3 | copy number gain | See cases [RCV000052569] | Chr18:45541699..46697357 [GRCh38] Chr18:43121664..44277320 [GRCh37] Chr18:41375662..42531318 [NCBI36] Chr18:18q12.3-21.1 |
pathogenic |
GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1 | copy number loss | See cases [RCV000053831] | Chr18:36859191..47164436 [GRCh38] Chr18:34439154..44690807 [GRCh37] Chr18:32693152..42944805 [NCBI36] Chr18:18q12.2-21.1 |
pathogenic |
GRCh38/hg38 18q12.3-21.1(chr18:40718750-47042515)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053832]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053832]|See cases [RCV000053832] | Chr18:40718750..47042515 [GRCh38] Chr18:38298714..44568886 [GRCh37] Chr18:36552712..42822884 [NCBI36] Chr18:18q12.3-21.1 |
pathogenic |
GRCh38/hg38 18q12.3-21.1(chr18:40718750-48354407)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053833]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053833]|See cases [RCV000053833] | Chr18:40718750..48354407 [GRCh38] Chr18:38298714..45880778 [GRCh37] Chr18:36552712..44134776 [NCBI36] Chr18:18q12.3-21.1 |
pathogenic |
NM_015865.6(SLC14A1):c.1071C>T (p.Ser357=) | single nucleotide variant | Malignant melanoma [RCV000071829] | Chr18:45749852 [GRCh38] Chr18:43329817 [GRCh37] Chr18:41583815 [NCBI36] Chr18:18q12.3 |
not provided |
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 | copy number gain | See cases [RCV000134110] | Chr18:149089..80234391 [GRCh38] Chr18:149089..77992274 [GRCh37] Chr18:139089..76093265 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 | copy number gain | See cases [RCV000136910] | Chr18:38794728..65632804 [GRCh38] Chr18:36374692..63300040 [GRCh37] Chr18:34628690..61451020 [NCBI36] Chr18:18q12.2-22.1 |
pathogenic |
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 | copy number gain | See cases [RCV000136890] | Chr18:32123105..80252149 [GRCh38] Chr18:29703068..78010032 [GRCh37] Chr18:27957066..76111023 [NCBI36] Chr18:18q12.1-23 |
pathogenic |
GRCh38/hg38 18q12.3(chr18:44401938-45869924)x1 | copy number loss | See cases [RCV000136681] | Chr18:44401938..45869924 [GRCh38] Chr18:41981903..43449889 [GRCh37] Chr18:40235901..41703887 [NCBI36] Chr18:18q12.3 |
uncertain significance |
GRCh38/hg38 18q12.3-21.1(chr18:42335174-46726460)x1 | copy number loss | See cases [RCV000136771] | Chr18:42335174..46726460 [GRCh38] Chr18:39915139..44306423 [GRCh37] Chr18:38169137..42560421 [NCBI36] Chr18:18q12.3-21.1 |
pathogenic |
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 | copy number gain | See cases [RCV000138034] | Chr18:42651392..80254946 [GRCh38] Chr18:40231357..78012829 [GRCh37] Chr18:38485355..76113817 [NCBI36] Chr18:18q12.3-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 | copy number gain | See cases [RCV000138656] | Chr18:118760..80254946 [GRCh38] Chr18:118760..78012829 [GRCh37] Chr18:108760..76113817 [NCBI36] Chr18:18p11.32-q23 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 | copy number gain | See cases [RCV000139397] | Chr18:149089..80254936 [GRCh38] Chr18:149089..78012819 [GRCh37] Chr18:139089..76113807 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.3-21.1(chr18:43833480-46144138)x1 | copy number loss | See cases [RCV000141093] | Chr18:43833480..46144138 [GRCh38] Chr18:41413445..43724104 [GRCh37] Chr18:39667443..41978102 [NCBI36] Chr18:18q12.3-21.1 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 | copy number gain | See cases [RCV000142244] | Chr18:136227..80256240 [GRCh38] Chr18:136227..78014123 [GRCh37] Chr18:126227..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 | copy number gain | See cases [RCV000142227] | Chr18:40367455..80256240 [GRCh38] Chr18:37947419..78014123 [GRCh37] Chr18:36201417..76115097 [NCBI36] Chr18:18q12.3-23 |
pathogenic |
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 | copy number gain | See cases [RCV000143057] | Chr18:20962119..74691446 [GRCh38] Chr18:18542080..72403402 [GRCh37] Chr18:16796078..70532390 [NCBI36] Chr18:18q11.1-22.3 |
pathogenic |
GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1 | copy number loss | See cases [RCV000142696] | Chr18:41722823..49043887 [GRCh38] Chr18:39302787..46570257 [GRCh37] Chr18:37556785..44824255 [NCBI36] Chr18:18q12.3-21.1 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 | copy number gain | See cases [RCV000143218] | Chr18:136226..80256240 [GRCh38] Chr18:136226..78014123 [GRCh37] Chr18:126226..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 | copy number gain | See cases [RCV000148072] | Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 | copy number gain | See cases [RCV000240130] | Chr18:163323..78005236 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 | copy number gain | See cases [RCV000240476] | Chr18:18548019..77954165 [GRCh37] Chr18:18q11.1-23 |
pathogenic |
NM_015865.7(SLC14A1):c.399G>A (p.Met133Ile) | single nucleotide variant | not specified [RCV004308974] | Chr18:45734331 [GRCh38] Chr18:43314296 [GRCh37] Chr18:18q12.3 |
uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 | copy number gain | See cases [RCV000446047] | Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 | copy number gain | See cases [RCV000445851] | Chr18:163323..78005185 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 | copy number gain | See cases [RCV000512081] | Chr18:33417216..78014123 [GRCh37] Chr18:18q12.2-23 |
pathogenic |
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 | copy number gain | See cases [RCV000511857] | Chr18:136227..46171053 [GRCh37] Chr18:18p11.32-q21.1 |
pathogenic |
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 | copy number gain | See cases [RCV000511734] | Chr18:18521285..64495798 [GRCh37] Chr18:18q11.1-22.1 |
pathogenic |
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 | copy number gain | See cases [RCV000512030] | Chr18:14869204..78014123 [GRCh37] Chr18:18p11.21-q23 |
pathogenic |
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 | copy number gain | See cases [RCV000511124] | Chr18:24835114..46917217 [GRCh37] Chr18:18q11.2-21.1 |
likely benign |
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 | copy number gain | See cases [RCV000511203] | Chr18:42930373..78014123 [GRCh37] Chr18:18q12.3-23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) | copy number gain | See cases [RCV000511189] | Chr18:136227..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 | copy number gain | See cases [RCV000512425] | Chr18:31879854..78014123 [GRCh37] Chr18:18q12.1-23 |
pathogenic |
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 | copy number gain | not provided [RCV000684057] | Chr18:35866313..55082983 [GRCh37] Chr18:18q12.2-21.31 |
pathogenic |
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 | copy number gain | not provided [RCV000739776] | Chr18:18539806..49926444 [GRCh37] Chr18:18q11.1-21.2 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 | copy number gain | not provided [RCV000752245] | Chr18:12842..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 | copy number gain | not provided [RCV000752246] | Chr18:13034..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_015865.7(SLC14A1):c.511T>C (p.Trp171Arg) | single nucleotide variant | not provided [RCV000949023] | Chr18:45736496 [GRCh38] Chr18:43316461 [GRCh37] Chr18:18q12.3 |
benign |
NM_015865.7(SLC14A1):c.402T>C (p.Ala134=) | single nucleotide variant | not provided [RCV000949022] | Chr18:45734334 [GRCh38] Chr18:43314299 [GRCh37] Chr18:18q12.3 |
benign |
NM_015865.7(SLC14A1):c.61C>A (p.Gln21Lys) | single nucleotide variant | not specified [RCV004291497] | Chr18:45730381 [GRCh38] Chr18:43310346 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.1121G>A (p.Arg374His) | single nucleotide variant | not specified [RCV004298338] | Chr18:45749902 [GRCh38] Chr18:43329867 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.350T>C (p.Ile117Thr) | single nucleotide variant | not specified [RCV004305600] | Chr18:45734282 [GRCh38] Chr18:43314247 [GRCh37] Chr18:18q12.3 |
likely benign |
NM_015865.7(SLC14A1):c.947-1453_*2066del | deletion | BLOOD GROUP--KIDD SYSTEM [RCV001568355] | Chr18:45746922..45752016 [GRCh38] Chr18:43326887..43331981 [GRCh37] Chr18:18q12.3 |
not provided |
NM_015865.7(SLC14A1):c.28G>A (p.Val10Met) | single nucleotide variant | not provided [RCV000953072] | Chr18:45730348 [GRCh38] Chr18:43310313 [GRCh37] Chr18:18q12.3 |
benign |
NM_015865.7(SLC14A1):c.226G>A (p.Val76Ile) | single nucleotide variant | not provided [RCV000953073] | Chr18:45731089 [GRCh38] Chr18:43311054 [GRCh37] Chr18:18q12.3 |
benign |
NM_015865.7(SLC14A1):c.303G>A (p.Val101=) | single nucleotide variant | not provided [RCV000953074] | Chr18:45731166 [GRCh38] Chr18:43311131 [GRCh37] Chr18:18q12.3 |
benign |
GRCh37/hg19 18q12.3-21.1(chr18:39800804-44365152)x1 | copy number loss | not provided [RCV001006976] | Chr18:39800804..44365152 [GRCh37] Chr18:18q12.3-21.1 |
pathogenic |
GRCh37/hg19 18q12.3-21.1(chr18:41630585-45107905)x1 | copy number loss | not provided [RCV001006977] | Chr18:41630585..45107905 [GRCh37] Chr18:18q12.3-21.1 |
pathogenic |
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 | copy number gain | not provided [RCV001006980] | Chr18:20689919..49455212 [GRCh37] Chr18:18q11.2-21.2 |
pathogenic |
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 | copy number gain | not provided [RCV001537911] | Chr18:23626739..78014976 [GRCh37] Chr18:18q11.2-23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) | copy number gain | Trisomy 18 [RCV002280660] | Chr18:1..78077248 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NC_000018.9:g.(?_42281312)_(45423127_?)del | deletion | not provided [RCV004579861] | Chr18:42281312..45423127 [GRCh37] Chr18:18q12.3-21.1 |
pathogenic|uncertain significance |
NM_015865.7(SLC14A1):c.809C>A (p.Ala270Glu) | single nucleotide variant | altered red cell phenotype [RCV001754579] | Chr18:45739308 [GRCh38] Chr18:43319273 [GRCh37] Chr18:18q12.3 |
affects |
Single allele | deletion | Intellectual disability [RCV001787257] | Chr18:1262336..53254747 [GRCh37] Chr18:18p11.32-q21.2 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) | copy number gain | not specified [RCV002052616] | Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NC_000018.9:g.(?_42281312)_(45423127_?)dup | duplication | Microcephaly, epilepsy, and diabetes syndrome [RCV001923035]|Vici syndrome [RCV001923036] | Chr18:42281312..45423127 [GRCh37] Chr18:18q12.3-21.1 |
uncertain significance |
NM_015865.7(SLC14A1):c.510del (p.Lys170fs) | deletion | BLOOD GROUP--KIDD SYSTEM [RCV002221430] | Chr18:45736493 [GRCh38] Chr18:43316458 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NC_000018.9:g.(?_42281312)_(44236996_?)del | deletion | not provided [RCV003119618] | Chr18:42281312..44236996 [GRCh37] Chr18:18q12.3-21.1 |
pathogenic |
NM_015865.7(SLC14A1):c.352G>A (p.Ala118Thr) | single nucleotide variant | not specified [RCV004304363] | Chr18:45734284 [GRCh38] Chr18:43314249 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.62A>G (p.Gln21Arg) | single nucleotide variant | not specified [RCV004095804] | Chr18:45730382 [GRCh38] Chr18:43310347 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.718T>C (p.Trp240Arg) | single nucleotide variant | not specified [RCV004245214] | Chr18:45739217 [GRCh38] Chr18:43319182 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.1118A>T (p.Asn373Ile) | single nucleotide variant | not provided [RCV004695639]|not specified [RCV004203297] | Chr18:45749899 [GRCh38] Chr18:43329864 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.739G>A (p.Gly247Arg) | single nucleotide variant | not specified [RCV004131183] | Chr18:45739238 [GRCh38] Chr18:43319203 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.742G>A (p.Ala248Thr) | single nucleotide variant | not specified [RCV004106953] | Chr18:45739241 [GRCh38] Chr18:43319206 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.770G>T (p.Cys257Phe) | single nucleotide variant | not specified [RCV004187884] | Chr18:45739269 [GRCh38] Chr18:43319234 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.287G>T (p.Gly96Val) | single nucleotide variant | not specified [RCV004170588] | Chr18:45731150 [GRCh38] Chr18:43311115 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.219C>A (p.Asn73Lys) | single nucleotide variant | not specified [RCV004154740] | Chr18:45731082 [GRCh38] Chr18:43311047 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.313C>G (p.Leu105Val) | single nucleotide variant | not specified [RCV004274858] | Chr18:45731176 [GRCh38] Chr18:43311141 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.428T>G (p.Phe143Cys) | single nucleotide variant | not specified [RCV004270135] | Chr18:45734360 [GRCh38] Chr18:43314325 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.1039C>G (p.Leu347Val) | single nucleotide variant | not specified [RCV004314331] | Chr18:45749820 [GRCh38] Chr18:43329785 [GRCh37] Chr18:18q12.3 |
uncertain significance |
GRCh37/hg19 18q12.3(chr18:42755010-43472426)x3 | copy number gain | not provided [RCV003485184] | Chr18:42755010..43472426 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.264_265dup (p.Asn89fs) | duplication | SLC14A1-related disorder [RCV003422467] | Chr18:45731125..45731126 [GRCh38] Chr18:43311090..43311091 [GRCh37] Chr18:18q12.3 |
likely pathogenic |
GRCh37/hg19 18q12.2-21.1(chr18:36823620-44030870)x1 | copy number loss | not specified [RCV003987291] | Chr18:36823620..44030870 [GRCh37] Chr18:18q12.2-21.1 |
likely pathogenic |
GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1 | copy number loss | not specified [RCV003987274] | Chr18:33793283..46823898 [GRCh37] Chr18:18q12.2-21.1 |
pathogenic |
NM_015865.7(SLC14A1):c.471-10_471-8del | deletion | SLC14A1-related disorder [RCV003919544] | Chr18:45736444..45736446 [GRCh38] Chr18:43316409..43316411 [GRCh37] Chr18:18q12.3 |
likely benign |
NM_015865.7(SLC14A1):c.-22+2360C>A | single nucleotide variant | SLC14A1-related disorder [RCV003979814] | Chr18:45727373 [GRCh38] Chr18:43307338 [GRCh37] Chr18:18q12.3 |
benign |
NM_015865.7(SLC14A1):c.-22+2268C>T | single nucleotide variant | SLC14A1-related disorder [RCV003982436] | Chr18:45727281 [GRCh38] Chr18:43307246 [GRCh37] Chr18:18q12.3 |
benign |
NM_015865.7(SLC14A1):c.130G>A (p.Glu44Lys) | single nucleotide variant | SLC14A1-related disorder [RCV003979857] | Chr18:45730450 [GRCh38] Chr18:43310415 [GRCh37] Chr18:18q12.3 |
benign |
NM_015865.7(SLC14A1):c.588A>G (p.Pro196=) | single nucleotide variant | SLC14A1-related disorder [RCV003967379] | Chr18:45736573 [GRCh38] Chr18:43316538 [GRCh37] Chr18:18q12.3 |
benign |
NM_015865.7(SLC14A1):c.634A>G (p.Ile212Val) | single nucleotide variant | not specified [RCV004448354] | Chr18:45736619 [GRCh38] Chr18:43316584 [GRCh37] Chr18:18q12.3 |
likely benign |
NM_015865.7(SLC14A1):c.554C>T (p.Ser185Leu) | single nucleotide variant | not specified [RCV004456369] | Chr18:45736539 [GRCh38] Chr18:43316504 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.501G>C (p.Met167Ile) | single nucleotide variant | not specified [RCV004456368] | Chr18:45736486 [GRCh38] Chr18:43316451 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.1111G>A (p.Glu371Lys) | single nucleotide variant | not specified [RCV004456366] | Chr18:45749892 [GRCh38] Chr18:43329857 [GRCh37] Chr18:18q12.3 |
uncertain significance |
NM_015865.7(SLC14A1):c.137C>A (p.Ala46Asp) | single nucleotide variant | not specified [RCV004670106] | Chr18:45730457 [GRCh38] Chr18:43310422 [GRCh37] Chr18:18q12.3 |
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 |
G59635 |
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D18S899E |
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SHGC-143656 |
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SHGC-32575 |
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RH16293 |
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G54655 |
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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
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nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1203 | 2366 | 2787 | 2234 | 4811 | 1704 | 2186 | 5 | 607 | 1878 | 447 | 2133 | 7137 | 6395 | 23 | 3696 | 819 | 1649 | 1470 | 166 | 1 |
RefSeq Transcripts | NG_011775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001128588 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001146036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001146037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001308278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001308279 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_015865 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005258329 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005258333 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006722526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011526142 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011526144 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024451238 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047437758 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047437759 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054319020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054319021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054319022 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054319023 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054319024 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054319025 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001753266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB638491 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB845711 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB845712 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB845713 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB845714 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB845715 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB845716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB845717 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC023421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF046026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF129817 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF263545 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF328890 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF328891 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF328892 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ316564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ316565 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK091064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK123681 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK127452 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK289608 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK294129 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AU134365 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AV724913 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY942197 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC040128 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC050539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471088 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068260 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA051199 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA134800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA156178 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA186606 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA473671 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF571316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF571317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF571318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GQ502682 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HE577851 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HQ709264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HQ729919 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HQ729920 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HQ729921 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HQ834246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HQ834247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HQ834248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JN104323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JN104324 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JN410949 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JN410950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JN410951 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JN571297 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JN571298 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KC677694 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KJ874241 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KJ946236 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP202967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KY471389 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KY706499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L36121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC730373 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC730374 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LK391765 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LK391766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LK391767 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LT596167 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LT596168 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LT596171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MF419235 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MF445412 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MF445413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MF445414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MF471368 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MF588958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MF588959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MF588960 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MF588961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MG322177 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MG601100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MG720267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MG813352 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK182264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604778 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604779 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604785 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604786 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604787 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604795 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604796 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604797 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604798 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604801 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW604802 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW712669 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ817082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OK087526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OK087527 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OM985596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OP796717 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034563 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034565 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034566 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034568 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034569 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034571 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034572 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034573 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034574 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034575 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034576 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034577 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034579 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034580 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PP034582 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U35735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y19039 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000321925 ⟹ ENSP00000318546 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000402943 ⟹ ENSP00000385320 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000415427 ⟹ ENSP00000412309 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000436407 ⟹ ENSP00000390637 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000502059 ⟹ ENSP00000442180 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000535474 ⟹ ENSP00000441998 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000586056 ⟹ ENSP00000470055 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000586142 ⟹ ENSP00000470476 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000586854 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000586951 ⟹ ENSP00000465702 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000587601 ⟹ ENSP00000465029 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000588179 ⟹ ENSP00000467898 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000589322 ⟹ ENSP00000466273 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000589700 ⟹ ENSP00000465044 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000590246 ⟹ ENSP00000468763 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000590377 ⟹ ENSP00000465150 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000591541 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000591642 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000619403 ⟹ ENSP00000479595 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000644925 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001128588 ⟹ NP_001122060 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001146036 ⟹ NP_001139508 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001146037 ⟹ NP_001139509 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001308278 ⟹ NP_001295207 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001308279 ⟹ NP_001295208 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_015865 ⟹ NP_056949 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005258329 ⟹ XP_005258386 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005258333 ⟹ XP_005258390 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006722526 ⟹ XP_006722589 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011526142 ⟹ XP_011524444 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011526144 ⟹ XP_011524446 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047437758 ⟹ XP_047293714 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047437759 ⟹ XP_047293715 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054319020 ⟹ XP_054174995 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054319021 ⟹ XP_054174996 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054319022 ⟹ XP_054174997 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054319023 ⟹ XP_054174998 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054319024 ⟹ XP_054174999 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054319025 ⟹ XP_054175000 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001122060 | (Get FASTA) | NCBI Sequence Viewer |
NP_001139508 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001139509 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001295207 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001295208 | (Get FASTA) | NCBI Sequence Viewer | |
NP_056949 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005258386 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005258390 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006722589 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011524444 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011524446 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047293714 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047293715 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054174995 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054174996 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054174997 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054174998 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054174999 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054175000 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB00181 | (Get FASTA) | NCBI Sequence Viewer |
AAC69610 | (Get FASTA) | NCBI Sequence Viewer | |
AAD43502 | (Get FASTA) | NCBI Sequence Viewer | |
AAH50539 | (Get FASTA) | NCBI Sequence Viewer | |
AAL37474 | (Get FASTA) | NCBI Sequence Viewer | |
AAX20112 | (Get FASTA) | NCBI Sequence Viewer | |
ACV91713 | (Get FASTA) | NCBI Sequence Viewer | |
ADW41579 | (Get FASTA) | NCBI Sequence Viewer | |
AEG64823 | (Get FASTA) | NCBI Sequence Viewer | |
AEG64824 | (Get FASTA) | NCBI Sequence Viewer | |
AEG64825 | (Get FASTA) | NCBI Sequence Viewer | |
AEG64826 | (Get FASTA) | NCBI Sequence Viewer | |
AEG64827 | (Get FASTA) | NCBI Sequence Viewer | |
AEN14346 | (Get FASTA) | NCBI Sequence Viewer | |
AEN14347 | (Get FASTA) | NCBI Sequence Viewer | |
AFC36888 | (Get FASTA) | NCBI Sequence Viewer | |
AFC36889 | (Get FASTA) | NCBI Sequence Viewer | |
AFC36890 | (Get FASTA) | NCBI Sequence Viewer | |
AFN89220 | (Get FASTA) | NCBI Sequence Viewer | |
AFN89221 | (Get FASTA) | NCBI Sequence Viewer | |
AFN89222 | (Get FASTA) | NCBI Sequence Viewer | |
AGN03946 | (Get FASTA) | NCBI Sequence Viewer | |
AIL24477 | (Get FASTA) | NCBI Sequence Viewer | |
AIN41649 | (Get FASTA) | NCBI Sequence Viewer | |
ARS01414 | (Get FASTA) | NCBI Sequence Viewer | |
ASL68258 | (Get FASTA) | NCBI Sequence Viewer | |
ASL68259 | (Get FASTA) | NCBI Sequence Viewer | |
ASL68260 | (Get FASTA) | NCBI Sequence Viewer | |
AST61826 | (Get FASTA) | NCBI Sequence Viewer | |
AST61827 | (Get FASTA) | NCBI Sequence Viewer | |
AST61828 | (Get FASTA) | NCBI Sequence Viewer | |
ATQ36108 | (Get FASTA) | NCBI Sequence Viewer | |
AUF74476 | (Get FASTA) | NCBI Sequence Viewer | |
AUM57518 | (Get FASTA) | NCBI Sequence Viewer | |
AUS45885 | (Get FASTA) | NCBI Sequence Viewer | |
AXZ96472 | (Get FASTA) | NCBI Sequence Viewer | |
BAF82297 | (Get FASTA) | NCBI Sequence Viewer | |
BAG52274 | (Get FASTA) | NCBI Sequence Viewer | |
BAG53935 | (Get FASTA) | NCBI Sequence Viewer | |
BAG54505 | (Get FASTA) | NCBI Sequence Viewer | |
BAG57459 | (Get FASTA) | NCBI Sequence Viewer | |
BAG58255 | (Get FASTA) | NCBI Sequence Viewer | |
BDS04850 | (Get FASTA) | NCBI Sequence Viewer | |
BDS04851 | (Get FASTA) | NCBI Sequence Viewer | |
CAB60834 | (Get FASTA) | NCBI Sequence Viewer | |
CAC86943 | (Get FASTA) | NCBI Sequence Viewer | |
CCD04138 | (Get FASTA) | NCBI Sequence Viewer | |
CDR98193 | (Get FASTA) | NCBI Sequence Viewer | |
CDR98194 | (Get FASTA) | NCBI Sequence Viewer | |
CDR98195 | (Get FASTA) | NCBI Sequence Viewer | |
EAX01458 | (Get FASTA) | NCBI Sequence Viewer | |
EAX01459 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000318546 | ||
ENSP00000318546.4 | |||
ENSP00000385320 | |||
ENSP00000385320.2 | |||
ENSP00000390637 | |||
ENSP00000390637.2 | |||
ENSP00000412309 | |||
ENSP00000412309.2 | |||
ENSP00000441998 | |||
ENSP00000441998.1 | |||
ENSP00000442180.2 | |||
ENSP00000465029.1 | |||
ENSP00000465044.1 | |||
ENSP00000465150.1 | |||
ENSP00000465702 | |||
ENSP00000465702.2 | |||
ENSP00000466273 | |||
ENSP00000466273.3 | |||
ENSP00000467898.2 | |||
ENSP00000468763.2 | |||
ENSP00000470055.1 | |||
ENSP00000470476.1 | |||
ENSP00000479595.1 | |||
GenBank Protein | Q13336 | (Get FASTA) | NCBI Sequence Viewer |
QFZ79186 | (Get FASTA) | NCBI Sequence Viewer | |
SBU87548 | (Get FASTA) | NCBI Sequence Viewer | |
SBU87549 | (Get FASTA) | NCBI Sequence Viewer | |
SBU87552 | (Get FASTA) | NCBI Sequence Viewer | |
UBU33037 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56390 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56391 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56392 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56393 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56394 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56395 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56396 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56397 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56398 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56399 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56400 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56401 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56402 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56403 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56404 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56405 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56406 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56407 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56408 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56409 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56410 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56411 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56412 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56413 | (Get FASTA) | NCBI Sequence Viewer | |
ULR56414 | (Get FASTA) | NCBI Sequence Viewer | |
UTD45044 | (Get FASTA) | NCBI Sequence Viewer | |
UVJ88705 | (Get FASTA) | NCBI Sequence Viewer | |
UVJ88706 | (Get FASTA) | NCBI Sequence Viewer | |
WBR34597 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36613 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36614 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36615 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36616 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36617 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36618 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36619 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36620 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36621 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36622 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36623 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36624 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36625 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36626 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36627 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36628 | (Get FASTA) | NCBI Sequence Viewer | |
WRX36629 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001122060 ⟸ NM_001128588 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A0A7L9QHR7 (UniProtKB/TrEMBL), F6IQ87 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001139508 ⟸ NM_001146036 |
- Peptide Label: | isoform 2 |
- UniProtKB: | C9EHF2 (UniProtKB/Swiss-Prot), B3KVX3 (UniProtKB/Swiss-Prot), B3KR62 (UniProtKB/Swiss-Prot), A8K0P3 (UniProtKB/Swiss-Prot), Q86VM5 (UniProtKB/Swiss-Prot), Q13336 (UniProtKB/Swiss-Prot), G0W2N5 (UniProtKB/TrEMBL), A0A7L9QHR7 (UniProtKB/TrEMBL), F6IQ87 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_056949 ⟸ NM_015865 |
- Peptide Label: | isoform 2 |
- UniProtKB: | C9EHF2 (UniProtKB/Swiss-Prot), B3KVX3 (UniProtKB/Swiss-Prot), B3KR62 (UniProtKB/Swiss-Prot), A8K0P3 (UniProtKB/Swiss-Prot), Q86VM5 (UniProtKB/Swiss-Prot), Q13336 (UniProtKB/Swiss-Prot), G0W2N5 (UniProtKB/TrEMBL), A0A7L9QHR7 (UniProtKB/TrEMBL), F6IQ87 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001139509 ⟸ NM_001146037 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A0A7L9QHR7 (UniProtKB/TrEMBL), F6IQ87 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005258386 ⟸ XM_005258329 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A2I6PCQ9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005258390 ⟸ XM_005258333 |
- Peptide Label: | isoform X5 |
- UniProtKB: | F5GWS2 (UniProtKB/TrEMBL), M0QX00 (UniProtKB/TrEMBL), B4DHU3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006722589 ⟸ XM_006722526 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A7L9QHR7 (UniProtKB/TrEMBL), F6IQ87 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011524446 ⟸ XM_011526144 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A2I6PCQ9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011524444 ⟸ XM_011526142 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A7L9QHR7 (UniProtKB/TrEMBL), F6IQ87 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001295207 ⟸ NM_001308278 |
- Peptide Label: | isoform 3 |
- UniProtKB: | B4DFJ8 (UniProtKB/TrEMBL), E7EQN3 (UniProtKB/TrEMBL), B3KXJ3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001295208 ⟸ NM_001308279 |
- Peptide Label: | isoform 4 |
- UniProtKB: | B4DHU3 (UniProtKB/TrEMBL), F5GWS2 (UniProtKB/TrEMBL), M0QX00 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000442180 ⟸ ENST00000502059 |
Ensembl Acc Id: | ENSP00000318546 ⟸ ENST00000321925 |
Ensembl Acc Id: | ENSP00000412309 ⟸ ENST00000415427 |
Ensembl Acc Id: | ENSP00000465702 ⟸ ENST00000586951 |
Ensembl Acc Id: | ENSP00000470476 ⟸ ENST00000586142 |
Ensembl Acc Id: | ENSP00000470055 ⟸ ENST00000586056 |
Ensembl Acc Id: | ENSP00000465029 ⟸ ENST00000587601 |
Ensembl Acc Id: | ENSP00000467898 ⟸ ENST00000588179 |
Ensembl Acc Id: | ENSP00000385320 ⟸ ENST00000402943 |
Ensembl Acc Id: | ENSP00000441998 ⟸ ENST00000535474 |
Ensembl Acc Id: | ENSP00000466273 ⟸ ENST00000589322 |
Ensembl Acc Id: | ENSP00000465044 ⟸ ENST00000589700 |
Ensembl Acc Id: | ENSP00000465150 ⟸ ENST00000590377 |
Ensembl Acc Id: | ENSP00000468763 ⟸ ENST00000590246 |
Ensembl Acc Id: | ENSP00000479595 ⟸ ENST00000619403 |
Ensembl Acc Id: | ENSP00000390637 ⟸ ENST00000436407 |
RefSeq Acc Id: | XP_047293714 ⟸ XM_047437758 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047293715 ⟸ XM_047437759 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054174997 ⟸ XM_054319022 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054174996 ⟸ XM_054319021 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054174995 ⟸ XM_054319020 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054175000 ⟸ XM_054319025 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054174999 ⟸ XM_054319024 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054174998 ⟸ XM_054319023 |
- Peptide Label: | isoform X3 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q13336-F1-model_v2 | AlphaFold | Q13336 | 1-389 | view protein structure |
RGD ID: | 6795000 | ||||||||
Promoter ID: | HG_KWN:27939 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, K562 | ||||||||
Transcripts: | NM_001146036, OTTHUMT00000255860, UC002LBG.2, UC002LBH.2, UC002LBI.2, UC010DNK.1 | ||||||||
Position: |
|
RGD ID: | 7237239 | ||||||||
Promoter ID: | EPDNEW_H24365 | ||||||||
Type: | initiation region | ||||||||
Name: | SLC14A1_1 | ||||||||
Description: | solute carrier family 14 member 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:10918 | AgrOrtholog |
COSMIC | SLC14A1 | COSMIC |
Ensembl Genes | ENSG00000141469 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000321925 | ENTREZGENE |
ENST00000321925.9 | UniProtKB/Swiss-Prot | |
ENST00000402943 | ENTREZGENE | |
ENST00000402943.6 | UniProtKB/TrEMBL | |
ENST00000415427 | ENTREZGENE | |
ENST00000415427.7 | UniProtKB/Swiss-Prot | |
ENST00000436407 | ENTREZGENE | |
ENST00000436407.7 | UniProtKB/Swiss-Prot | |
ENST00000502059.7 | UniProtKB/TrEMBL | |
ENST00000535474 | ENTREZGENE | |
ENST00000535474.5 | UniProtKB/TrEMBL | |
ENST00000586056.5 | UniProtKB/TrEMBL | |
ENST00000586142.5 | UniProtKB/Swiss-Prot | |
ENST00000586951 | ENTREZGENE | |
ENST00000586951.6 | UniProtKB/Swiss-Prot | |
ENST00000587601.5 | UniProtKB/TrEMBL | |
ENST00000588179.6 | UniProtKB/TrEMBL | |
ENST00000589322 | ENTREZGENE | |
ENST00000589322.7 | UniProtKB/TrEMBL | |
ENST00000589700.5 | UniProtKB/TrEMBL | |
ENST00000590246.6 | UniProtKB/TrEMBL | |
ENST00000590377.1 | UniProtKB/TrEMBL | |
ENST00000619403.4 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.3430.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000141469 | GTEx |
HGNC ID | HGNC:10918 | ENTREZGENE |
Human Proteome Map | SLC14A1 | Human Proteome Map |
InterPro | Ammonium/urea_transptr | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Urea_transporter | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:6563 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 6563 | ENTREZGENE |
OMIM | 613868 | OMIM |
PANTHER | PTHR10464 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UREA TRANSPORTER 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | PF03253 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA35810 | PharmGKB |
PIRSF | Urea_transporter | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A068W6W9_HUMAN | UniProtKB/TrEMBL |
A0A068W8S0_HUMAN | UniProtKB/TrEMBL | |
A0A068WAZ5_HUMAN | UniProtKB/TrEMBL | |
A0A088MYP2_HUMAN | UniProtKB/TrEMBL | |
A0A1X9WEH5_HUMAN | UniProtKB/TrEMBL | |
A0A221C5L9_HUMAN | UniProtKB/TrEMBL | |
A0A221C5Q0_HUMAN | UniProtKB/TrEMBL | |
A0A221C5S8_HUMAN | UniProtKB/TrEMBL | |
A0A223IA07_HUMAN | UniProtKB/TrEMBL | |
A0A223IA55_HUMAN | UniProtKB/TrEMBL | |
A0A223IAL0_HUMAN | UniProtKB/TrEMBL | |
A0A2D2AHB4_HUMAN | UniProtKB/TrEMBL | |
A0A2H4ZEW9_HUMAN | UniProtKB/TrEMBL | |
A0A2I6PCQ9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A2I7VTB5_HUMAN | UniProtKB/TrEMBL | |
A0A385KP44_HUMAN | UniProtKB/TrEMBL | |
A0A5Q0LRV5_HUMAN | UniProtKB/TrEMBL | |
A0A7L9QHR7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7L9QHV2_HUMAN | UniProtKB/TrEMBL | |
A8K0P3 | ENTREZGENE | |
B3KR62 | ENTREZGENE | |
B3KVX3 | ENTREZGENE | |
B3KXJ3 | ENTREZGENE, UniProtKB/TrEMBL | |
B4DFJ8 | ENTREZGENE, UniProtKB/TrEMBL | |
B4DHU3 | ENTREZGENE, UniProtKB/TrEMBL | |
C9EHF2 | ENTREZGENE | |
E7EQN3 | ENTREZGENE | |
E9NSU1_HUMAN | UniProtKB/TrEMBL | |
F5GWS2 | ENTREZGENE, UniProtKB/TrEMBL | |
F6IQ87 | ENTREZGENE, UniProtKB/TrEMBL | |
F6L6G8_HUMAN | UniProtKB/TrEMBL | |
F6L6G9_HUMAN | UniProtKB/TrEMBL | |
F6L6Y3_HUMAN | UniProtKB/TrEMBL | |
F6L6Y4_HUMAN | UniProtKB/TrEMBL | |
F6L6Y5_HUMAN | UniProtKB/TrEMBL | |
F6WB45_HUMAN | UniProtKB/TrEMBL | |
G0W2N5 | ENTREZGENE, UniProtKB/TrEMBL | |
G3K397_HUMAN | UniProtKB/TrEMBL | |
G3K398_HUMAN | UniProtKB/TrEMBL | |
H8ZQ04_HUMAN | UniProtKB/TrEMBL | |
H8ZQ05_HUMAN | UniProtKB/TrEMBL | |
H8ZQ06_HUMAN | UniProtKB/TrEMBL | |
J7FH15_HUMAN | UniProtKB/TrEMBL | |
J7FHA1_HUMAN | UniProtKB/TrEMBL | |
J7FHV9_HUMAN | UniProtKB/TrEMBL | |
K7EJ54_HUMAN | UniProtKB/TrEMBL | |
K7EJF6_HUMAN | UniProtKB/TrEMBL | |
K7EQM7_HUMAN | UniProtKB/TrEMBL | |
K7ESL3_HUMAN | UniProtKB/TrEMBL | |
M0QX00 | ENTREZGENE | |
M0QYS8_HUMAN | UniProtKB/TrEMBL | |
Q13336 | ENTREZGENE | |
Q86VM5 | ENTREZGENE | |
UT1_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A8K0P3 | UniProtKB/Swiss-Prot |
B3KR62 | UniProtKB/Swiss-Prot | |
B3KVX3 | UniProtKB/Swiss-Prot | |
C9EHF2 | UniProtKB/Swiss-Prot | |
E7EQN3 | UniProtKB/TrEMBL | |
M0QX00 | UniProtKB/TrEMBL | |
Q86VM5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-23 | SLC14A1 | solute carrier family 14 member 1 (Kidd blood group) | SLC14A1 | solute carrier family 14 (urea transporter), member 1 (Kidd blood group) | Symbol and/or name change | 5135510 | APPROVED |
2014-01-07 | SLC14A1 | solute carrier family 14 (urea transporter), member 1 (Kidd blood group) | SLC14A1 | solute carrier family 14 (urea transporter), member 1 | Symbol and/or name change | 5135510 | APPROVED |
2013-07-23 | SLC14A1 | solute carrier family 14 (urea transporter), member 1 | SLC14A1 | solute carrier family 14 (urea transporter), member 1 (Kidd blood group) | Symbol and/or name change | 5135510 | APPROVED |