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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CLEC12A | Human | rheumatoid arthritis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17568789 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CLEC12A | Human | rheumatoid arthritis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17568789 | |
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# | Reference Title | Reference Citation |
1. | The uric acid crystal receptor Clec12A potentiates type I interferon responses. | Li K, etal., Proc Natl Acad Sci U S A. 2019 Sep 10;116(37):18544-18549. doi: 10.1073/pnas.1821351116. Epub 2019 Aug 26. |
2. | The C-type Lectin Receptor CLEC12A Recognizes Plasmodial Hemozoin and Contributes to Cerebral Malaria Development. | Raulf MK, etal., Cell Rep. 2019 Jul 2;28(1):30-38.e5. doi: 10.1016/j.celrep.2019.06.015. |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. | Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363. |
PMID:10508765 | PMID:12477932 | PMID:12945048 | PMID:14739280 | PMID:15238421 | PMID:15548716 | PMID:16239426 | PMID:16838277 | PMID:17609428 | PMID:18350551 | PMID:19494282 | PMID:21677141 |
PMID:21873635 | PMID:22341585 | PMID:24152218 | PMID:25760768 | PMID:25957656 | PMID:26095365 | PMID:26186194 | PMID:27506934 | PMID:27566820 | PMID:27612176 | PMID:28514442 | PMID:28718199 |
PMID:28810819 | PMID:29316944 | PMID:29411522 | PMID:29427319 | PMID:29959143 | PMID:30520015 | PMID:32296183 | PMID:33094319 | PMID:33095915 | PMID:33369070 | PMID:33778076 | PMID:33961781 |
PMID:34053123 | PMID:34234773 | PMID:34638548 | PMID:34830054 | PMID:35156780 | PMID:35481814 | PMID:36542980 | PMID:36928077 | PMID:37102643 | PMID:38367667 | PMID:38386511 | PMID:39143217 |
CLEC12A (Homo sapiens - human) |
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Clec12a (Mus musculus - house mouse) |
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Clec12a (Rattus norvegicus - Norway rat) |
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CLEC12A (Pan paniscus - bonobo/pygmy chimpanzee) |
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CLEC12A (Canis lupus familiaris - dog) |
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Clec12a (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CLEC12A (Sus scrofa - pig) |
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CLEC12A (Chlorocebus sabaeus - green monkey) |
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Variants in CLEC12A
62 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 | copy number loss | See cases [RCV000052776] | Chr12:121055..28415184 [GRCh38] Chr12:282465..28568117 [GRCh37] Chr12:100482..28459384 [NCBI36] Chr12:12p13.33-11.22 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 | copy number gain | See cases [RCV000053660] | Chr12:77187..34380176 [GRCh38] Chr12:282465..34533111 [GRCh37] Chr12:56614..34424378 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 | copy number gain | See cases [RCV000053662] | Chr12:80412..25470329 [GRCh38] Chr12:282465..25623263 [GRCh37] Chr12:59839..25514530 [NCBI36] Chr12:12p13.33-12.1 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 | copy number gain | See cases [RCV000053666] | Chr12:212976..33926913 [GRCh38] Chr12:322142..34079848 [GRCh37] Chr12:192403..33971115 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
NM_001207010.1(CLEC12A):c.508G>A (p.Ala170Thr) | single nucleotide variant | Malignant melanoma [RCV000062372] | Chr12:9980680 [GRCh38] Chr12:10133279 [GRCh37] Chr12:10024546 [NCBI36] Chr12:12p13.31 |
not provided |
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 | copy number gain | See cases [RCV000136611] | Chr12:121255..34603274 [GRCh38] Chr12:282465..34756209 [GRCh37] Chr12:100682..34647476 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 | copy number gain | See cases [RCV000137694] | Chr12:2871741..14987348 [GRCh38] Chr12:2980907..15140282 [GRCh37] Chr12:2851168..15031549 [NCBI36] Chr12:12p13.33-12.3 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 | copy number gain | See cases [RCV000139052] | Chr12:121271..34603261 [GRCh38] Chr12:282465..34756196 [GRCh37] Chr12:100698..34647463 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 | copy number gain | See cases [RCV000139555] | Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 | copy number gain | See cases [RCV000139787] | Chr12:54427..34608071 [GRCh38] Chr12:282465..34761006 [GRCh37] Chr12:33854..34652273 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 | copy number gain | See cases [RCV000141905] | Chr12:1258274..20657577 [GRCh38] Chr12:1367440..20810511 [GRCh37] Chr12:1237701..20701778 [NCBI36] Chr12:12p13.33-12.2 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 | copy number gain | See cases [RCV000142149] | Chr12:64620..34682902 [GRCh38] Chr12:173786..34835837 [GRCh37] Chr12:44047..34727104 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
NM_001099431.1(CLEC1B):c.380G>A (p.Gly127Glu) | single nucleotide variant | Malignant melanoma [RCV000069772] | Chr12:9995206 [GRCh38] Chr12:10147805 [GRCh37] Chr12:10039072 [NCBI36] Chr12:12p13.31 |
not provided |
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 | copy number gain | See cases [RCV000240164] | Chr12:148034..34178799 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 | copy number gain | See cases [RCV000258805] | Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
chr12:10074776-18800953 complex variant | complex | Breast ductal adenocarcinoma [RCV000207105] | Chr12:10074776..18800953 [GRCh37] Chr12:12p13.31-12.3 |
uncertain significance |
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 | copy number gain | See cases [RCV000240487] | Chr12:89061..34178799 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 | copy number gain | See cases [RCV000449191] | Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11 |
pathogenic |
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 | copy number gain | See cases [RCV000449287] | Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 | copy number gain | See cases [RCV000447551] | Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 | copy number gain | See cases [RCV000446050] | Chr12:173786..20026080 [GRCh37] Chr12:12p13.33-12.2 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) | copy number gain | See cases [RCV000446017] | Chr12:189578..34756150 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.31-13.2(chr12:10015048-10124253)x1 | copy number loss | See cases [RCV000448782] | Chr12:10015048..10124253 [GRCh37] Chr12:12p13.31-13.2 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 | copy number gain | See cases [RCV000510482] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 | copy number gain | See cases [RCV000511580] | Chr12:565369..34835837 [GRCh37] Chr12:12p13.33-11.1 |
likely pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) | copy number gain | See cases [RCV000511643] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 | copy number gain | See cases [RCV000510853] | Chr12:173786..11677456 [GRCh37] Chr12:12p13.33-13.2 |
pathogenic |
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 | copy number gain | See cases [RCV000510961] | Chr12:173786..28219229 [GRCh37] Chr12:12p13.33-11.22 |
pathogenic |
NM_138337.6(CLEC12A):c.594T>A (p.Asp198Glu) | single nucleotide variant | not specified [RCV004293819] | Chr12:9982082 [GRCh38] Chr12:10134681 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.100G>T (p.Ala34Ser) | single nucleotide variant | not specified [RCV004329035] | Chr12:9998345 [GRCh38] Chr12:10150944 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 | copy number gain | not provided [RCV000683478] | Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 | copy number gain | not provided [RCV000683479] | Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 | copy number gain | not provided [RCV000683480] | Chr12:173786..37869107 [GRCh37] Chr12:12p13.33-q11 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 | copy number gain | not provided [RCV000750253] | Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.31-13.2(chr12:9904449-10253713)x3 | copy number gain | not provided [RCV000737769] | Chr12:9904449..10253713 [GRCh37] Chr12:12p13.31-13.2 |
benign |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 | copy number gain | not provided [RCV000750246] | Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 | copy number gain | not provided [RCV000750245] | Chr12:191619..31733044 [GRCh37] Chr12:12p13.33-11.21 |
pathogenic |
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) | copy number gain | not provided [RCV000767817] | Chr12:189216..15001420 [GRCh37] Chr12:12p13.33-12.3 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 | copy number gain | not provided [RCV000847209] | Chr12:173786..34496628 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 | copy number gain | not provided [RCV001006470] | Chr12:274676..37869301 [GRCh37] Chr12:12p13.33-q11 |
pathogenic |
GRCh37/hg19 12p13.31-13.2(chr12:10030182-10123036)x1 | copy number loss | not provided [RCV000846121] | Chr12:10030182..10123036 [GRCh37] Chr12:12p13.31-13.2 |
uncertain significance |
NM_138337.6(CLEC12A):c.302A>G (p.Asn101Ser) | single nucleotide variant | not specified [RCV004286382] | Chr12:9979447 [GRCh38] Chr12:10132046 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) | copy number gain | not specified [RCV002052958] | Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) | copy number gain | not specified [RCV002052957] | Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NC_000012.12:g.9876748_9972593del | deletion | not provided [RCV001837403] | Chr12:9876748..9972593 [GRCh38] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) | copy number gain | not specified [RCV002052955] | Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1 |
pathogenic |
NM_138337.6(CLEC12A):c.570G>C (p.Trp190Cys) | single nucleotide variant | not specified [RCV004304549] | Chr12:9982058 [GRCh38] Chr12:10134657 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.31-13.2(chr12:10049346-10322120)x3 | copy number gain | not provided [RCV002473879] | Chr12:10049346..10322120 [GRCh37] Chr12:12p13.31-13.2 |
uncertain significance |
NM_016509.4(CLEC1B):c.241T>A (p.Cys81Ser) | single nucleotide variant | not specified [RCV004144856] | Chr12:9997202 [GRCh38] Chr12:10149801 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.665T>A (p.Met222Lys) | single nucleotide variant | not specified [RCV004239944] | Chr12:9993168 [GRCh38] Chr12:10145767 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.181T>C (p.Tyr61His) | single nucleotide variant | not specified [RCV004163788] | Chr12:9997262 [GRCh38] Chr12:10149861 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.359A>G (p.Asn120Ser) | single nucleotide variant | not specified [RCV004134834] | Chr12:9996925 [GRCh38] Chr12:10149524 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.136G>T (p.Val46Phe) | single nucleotide variant | not specified [RCV004206863] | Chr12:9998309 [GRCh38] Chr12:10150908 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.187C>A (p.Gln63Lys) | single nucleotide variant | not specified [RCV004152369] | Chr12:9997256 [GRCh38] Chr12:10149855 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.526G>T (p.Ala176Ser) | single nucleotide variant | not specified [RCV004149664] | Chr12:9980728 [GRCh38] Chr12:10133327 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.509G>C (p.Trp170Ser) | single nucleotide variant | not specified [RCV004094752] | Chr12:9995176 [GRCh38] Chr12:10147775 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.402T>G (p.Asn134Lys) | single nucleotide variant | not specified [RCV004093609] | Chr12:9996882 [GRCh38] Chr12:10149481 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.452T>G (p.Val151Gly) | single nucleotide variant | not specified [RCV004099602] | Chr12:9980654 [GRCh38] Chr12:10133253 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.236G>A (p.Arg79His) | single nucleotide variant | not specified [RCV004194744] | Chr12:9997207 [GRCh38] Chr12:10149806 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.69A>C (p.Glu23Asp) | single nucleotide variant | not specified [RCV004237744] | Chr12:9971665 [GRCh38] Chr12:10124264 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 | copy number gain | Pallister-Killian syndrome [RCV003154827] | Chr12:176047..34179852 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_138337.6(CLEC12A):c.781T>C (p.Tyr261His) | single nucleotide variant | not specified [RCV004248523] | Chr12:9985009 [GRCh38] Chr12:10137608 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_138337.6(CLEC12A):c.315C>A (p.Asn105Lys) | single nucleotide variant | not specified [RCV004287097] | Chr12:9979460 [GRCh38] Chr12:10132059 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.575A>T (p.Asn192Ile) | single nucleotide variant | not specified [RCV004273515] | Chr12:9993258 [GRCh38] Chr12:10145857 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.205C>G (p.Arg69Gly) | single nucleotide variant | not specified [RCV004287098] | Chr12:9997238 [GRCh38] Chr12:10149837 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.286G>T (p.Gly96Cys) | single nucleotide variant | not specified [RCV004345444] | Chr12:9996998 [GRCh38] Chr12:10149597 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.434A>G (p.Tyr145Cys) | single nucleotide variant | not specified [RCV004343575] | Chr12:9980636 [GRCh38] Chr12:10133235 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.608T>C (p.Met203Thr) | single nucleotide variant | not specified [RCV004359854] | Chr12:9982096 [GRCh38] Chr12:10134695 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.295A>G (p.Ile99Val) | single nucleotide variant | not specified [RCV004352655] | Chr12:9979440 [GRCh38] Chr12:10132039 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.487G>A (p.Ala163Thr) | single nucleotide variant | not specified [RCV004343144] | Chr12:9980689 [GRCh38] Chr12:10133288 [GRCh37] Chr12:12p13.31 |
uncertain significance |
Single allele | duplication | not provided [RCV003448692] | Chr12:188053..34856694 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 | copy number gain | not specified [RCV003986979] | Chr12:173786..34835641 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_138337.6(CLEC12A):c.579A>T (p.Leu193Phe) | single nucleotide variant | not specified [RCV004436877] | Chr12:9982067 [GRCh38] Chr12:10134666 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.379A>G (p.Lys127Glu) | single nucleotide variant | not specified [RCV004436967] | Chr12:9996905 [GRCh38] Chr12:10149504 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.77C>T (p.Ser26Phe) | single nucleotide variant | not specified [RCV004436969] | Chr12:9998368 [GRCh38] Chr12:10150967 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.497C>A (p.Ala166Asp) | single nucleotide variant | not specified [RCV004436875] | Chr12:9980699 [GRCh38] Chr12:10133298 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.497C>T (p.Ala166Val) | single nucleotide variant | not specified [RCV004436876] | Chr12:9980699 [GRCh38] Chr12:10133298 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.97C>G (p.Pro33Ala) | single nucleotide variant | not specified [RCV004436874] | Chr12:9978971 [GRCh38] Chr12:10131570 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.100G>C (p.Ala34Pro) | single nucleotide variant | not specified [RCV004436956] | Chr12:9998345 [GRCh38] Chr12:10150944 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.223C>G (p.Gln75Glu) | single nucleotide variant | not specified [RCV004436961] | Chr12:9997220 [GRCh38] Chr12:10149819 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.320G>A (p.Arg107Lys) | single nucleotide variant | not specified [RCV004436964] | Chr12:9996964 [GRCh38] Chr12:10149563 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.353G>C (p.Arg118Thr) | single nucleotide variant | not specified [RCV004436966] | Chr12:9996931 [GRCh38] Chr12:10149530 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.370A>G (p.Lys124Glu) | single nucleotide variant | not specified [RCV004612939] | Chr12:9979515 [GRCh38] Chr12:10132114 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.128G>T (p.Gly43Val) | single nucleotide variant | not specified [RCV004436957] | Chr12:9998317 [GRCh38] Chr12:10150916 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.194A>G (p.Glu65Gly) | single nucleotide variant | not specified [RCV004436959] | Chr12:9997249 [GRCh38] Chr12:10149848 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.208A>G (p.Thr70Ala) | single nucleotide variant | not specified [RCV004436960] | Chr12:9997235 [GRCh38] Chr12:10149834 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.228A>T (p.Leu76Phe) | single nucleotide variant | not specified [RCV004436962] | Chr12:9997215 [GRCh38] Chr12:10149814 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.236G>T (p.Arg79Leu) | single nucleotide variant | not specified [RCV004436963] | Chr12:9997207 [GRCh38] Chr12:10149806 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.341A>T (p.Tyr114Phe) | single nucleotide variant | not specified [RCV004436965] | Chr12:9996943 [GRCh38] Chr12:10149542 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.566G>C (p.Gly189Ala) | single nucleotide variant | not specified [RCV004436968] | Chr12:9993267 [GRCh38] Chr12:10145866 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.73G>A (p.Gly25Ser) | single nucleotide variant | not specified [RCV004612937] | Chr12:9971669 [GRCh38] Chr12:10124268 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.266T>G (p.Ile89Ser) | single nucleotide variant | not specified [RCV004612940] | Chr12:9979411 [GRCh38] Chr12:10132010 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.250G>C (p.Val84Leu) | single nucleotide variant | not specified [RCV004612972] | Chr12:9997193 [GRCh38] Chr12:10149792 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_016509.4(CLEC1B):c.184C>G (p.Leu62Val) | single nucleotide variant | not specified [RCV004612974] | Chr12:9997259 [GRCh38] Chr12:10149858 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.91C>T (p.Arg31Cys) | single nucleotide variant | not specified [RCV004612973] | Chr12:9998354 [GRCh38] Chr12:10150953 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.519C>G (p.Asn173Lys) | single nucleotide variant | not specified [RCV004612938] | Chr12:9980721 [GRCh38] Chr12:10133320 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-11.1(chr12:173787-34835837)x4 | copy number gain | not provided [RCV004819308] | Chr12:173787..34835837 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_138337.6(CLEC12A):c.265A>G (p.Ile89Val) | single nucleotide variant | not specified [RCV004900089] | Chr12:9979410 [GRCh38] Chr12:10132009 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_138337.6(CLEC12A):c.776C>T (p.Ser259Phe) | single nucleotide variant | not specified [RCV004900090] | Chr12:9985004 [GRCh38] Chr12:10137603 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_016509.4(CLEC1B):c.511A>C (p.Lys171Gln) | single nucleotide variant | not specified [RCV004902212] | Chr12:9995174 [GRCh38] Chr12:10147773 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.206G>T (p.Arg69Leu) | single nucleotide variant | not specified [RCV004902205] | Chr12:9997237 [GRCh38] Chr12:10149836 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_016509.4(CLEC1B):c.559G>A (p.Glu187Lys) | single nucleotide variant | not specified [RCV004902214] | Chr12:9993274 [GRCh38] Chr12:10145873 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.136G>A (p.Val46Ile) | single nucleotide variant | not specified [RCV004902213] | Chr12:9998309 [GRCh38] Chr12:10150908 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.239T>C (p.Phe80Ser) | single nucleotide variant | not specified [RCV004902211] | Chr12:9997204 [GRCh38] Chr12:10149803 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.419T>C (p.Ile140Thr) | single nucleotide variant | not specified [RCV004902210] | Chr12:9996865 [GRCh38] Chr12:10149464 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.425A>G (p.Asn142Ser) | single nucleotide variant | not specified [RCV004902209] | Chr12:9996859 [GRCh38] Chr12:10149458 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_016509.4(CLEC1B):c.86G>C (p.Trp29Ser) | single nucleotide variant | not specified [RCV004902207] | Chr12:9998359 [GRCh38] Chr12:10150958 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_016509.4(CLEC1B):c.664A>G (p.Met222Val) | single nucleotide variant | not specified [RCV004902206] | Chr12:9993169 [GRCh38] Chr12:10145768 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.89A>C (p.Lys30Thr) | single nucleotide variant | not specified [RCV004900086] | Chr12:9971685 [GRCh38] Chr12:10124284 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.215T>C (p.Met72Thr) | single nucleotide variant | not specified [RCV004900087] | Chr12:9979360 [GRCh38] Chr12:10131959 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_138337.6(CLEC12A):c.779C>T (p.Thr260Ile) | single nucleotide variant | not specified [RCV004900088] | Chr12:9985007 [GRCh38] Chr12:10137606 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_138337.6(CLEC12A):c.655G>A (p.Ala219Thr) | single nucleotide variant | not specified [RCV004900091] | Chr12:9984883 [GRCh38] Chr12:10137482 [GRCh37] Chr12:12p13.31 |
likely benign |
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 |
SHGC-85259 |
|
adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2315 | 2721 | 2192 | 4150 | 1680 | 2106 | 3 | 601 | 1713 | 442 | 2020 | 6814 | 6174 | 9 | 3151 | 786 | 1616 | 1404 | 166 |
RefSeq Transcripts | NG_029426 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001207010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001300730 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_138337 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_201623 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005253324 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006719033 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006719035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006719036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011520570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011520571 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011520573 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047428397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047428399 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047428400 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047428401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047428402 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371220 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371224 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371225 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371226 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371227 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371228 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371229 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371230 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054371231 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC091814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF247788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY426759 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY498550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY498551 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY498552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY547296 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC027967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC063424 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC126289 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC126291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE242761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ017053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD642076 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471094 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CQ976593 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HI565710 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000304361 ⟹ ENSP00000302804 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000350667 ⟹ ENSP00000345448 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000355690 ⟹ ENSP00000347916 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000396507 ⟹ ENSP00000379764 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000434319 ⟹ ENSP00000405244 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000449959 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000543839 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001207010 ⟹ NP_001193939 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001300730 ⟹ NP_001287659 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_138337 ⟹ NP_612210 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_201623 ⟹ NP_963917 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005253324 ⟹ XP_005253381 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006719033 ⟹ XP_006719096 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006719035 ⟹ XP_006719098 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006719036 ⟹ XP_006719099 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011520570 ⟹ XP_011518872 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011520571 ⟹ XP_011518873 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011520573 ⟹ XP_011518875 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047428397 ⟹ XP_047284353 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047428399 ⟹ XP_047284355 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047428400 ⟹ XP_047284356 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047428401 ⟹ XP_047284357 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047428402 ⟹ XP_047284358 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371220 ⟹ XP_054227195 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371221 ⟹ XP_054227196 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371222 ⟹ XP_054227197 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371223 ⟹ XP_054227198 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371224 ⟹ XP_054227199 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371225 ⟹ XP_054227200 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371226 ⟹ XP_054227201 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371227 ⟹ XP_054227202 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371228 ⟹ XP_054227203 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371229 ⟹ XP_054227204 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371230 ⟹ XP_054227205 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054371231 ⟹ XP_054227206 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001193939 | (Get FASTA) | NCBI Sequence Viewer |
NP_001287659 | (Get FASTA) | NCBI Sequence Viewer | |
NP_612210 | (Get FASTA) | NCBI Sequence Viewer | |
NP_963917 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005253381 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006719096 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006719098 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006719099 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011518872 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011518873 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011518875 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047284353 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047284355 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047284356 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047284357 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047284358 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227195 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227196 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227197 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227198 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227199 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227200 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227201 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227202 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227203 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227204 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227205 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054227206 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH63424 | (Get FASTA) | NCBI Sequence Viewer |
AAI26290 | (Get FASTA) | NCBI Sequence Viewer | |
AAI26292 | (Get FASTA) | NCBI Sequence Viewer | |
AAL95693 | (Get FASTA) | NCBI Sequence Viewer | |
AAR84594 | (Get FASTA) | NCBI Sequence Viewer | |
AAS00605 | (Get FASTA) | NCBI Sequence Viewer | |
AAS00606 | (Get FASTA) | NCBI Sequence Viewer | |
AAS00607 | (Get FASTA) | NCBI Sequence Viewer | |
AAT11783 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36713 | (Get FASTA) | NCBI Sequence Viewer | |
CAI45358 | (Get FASTA) | NCBI Sequence Viewer | |
CBX47387 | (Get FASTA) | NCBI Sequence Viewer | |
EAW96132 | (Get FASTA) | NCBI Sequence Viewer | |
EAW96133 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000302804 | ||
ENSP00000302804.4 | |||
ENSP00000345448 | |||
ENSP00000345448.4 | |||
ENSP00000347916 | |||
ENSP00000347916.4 | |||
ENSP00000379764.3 | |||
ENSP00000405244 | |||
ENSP00000405244.2 | |||
GenBank Protein | Q5QGZ9 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001193939 ⟸ NM_001207010 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q5QGZ9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_612210 ⟸ NM_138337 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q6RH78 (UniProtKB/Swiss-Prot), Q6RH77 (UniProtKB/Swiss-Prot), Q6P4H1 (UniProtKB/Swiss-Prot), B2RA16 (UniProtKB/Swiss-Prot), Q8TDQ6 (UniProtKB/Swiss-Prot), Q5QGZ9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_963917 ⟸ NM_201623 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q5QGZ9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005253381 ⟸ XM_005253324 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q6RH78 (UniProtKB/Swiss-Prot), Q6RH77 (UniProtKB/Swiss-Prot), Q6P4H1 (UniProtKB/Swiss-Prot), B2RA16 (UniProtKB/Swiss-Prot), Q8TDQ6 (UniProtKB/Swiss-Prot), Q5QGZ9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006719098 ⟸ XM_006719035 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_006719096 ⟸ XM_006719033 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_006719099 ⟸ XM_006719036 |
- Peptide Label: | isoform X7 |
- Sequence: |
RefSeq Acc Id: | NP_001287659 ⟸ NM_001300730 |
- Peptide Label: | isoform 4 |
- UniProtKB: | Q5QGZ9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011518872 ⟸ XM_011520570 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q6RH78 (UniProtKB/Swiss-Prot), Q6RH77 (UniProtKB/Swiss-Prot), Q6P4H1 (UniProtKB/Swiss-Prot), B2RA16 (UniProtKB/Swiss-Prot), Q8TDQ6 (UniProtKB/Swiss-Prot), Q5QGZ9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011518875 ⟸ XM_011520573 |
- Peptide Label: | isoform X6 |
- Sequence: |
RefSeq Acc Id: | XP_011518873 ⟸ XM_011520571 |
- Peptide Label: | isoform X3 |
- Sequence: |
Ensembl Acc Id: | ENSP00000345448 ⟸ ENST00000350667 |
Ensembl Acc Id: | ENSP00000347916 ⟸ ENST00000355690 |
Ensembl Acc Id: | ENSP00000405244 ⟸ ENST00000434319 |
Ensembl Acc Id: | ENSP00000379764 ⟸ ENST00000396507 |
Ensembl Acc Id: | ENSP00000302804 ⟸ ENST00000304361 |
RefSeq Acc Id: | XP_047284355 ⟸ XM_047428399 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_047284356 ⟸ XM_047428400 |
- Peptide Label: | isoform X9 |
RefSeq Acc Id: | XP_047284353 ⟸ XM_047428397 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_047284357 ⟸ XM_047428401 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_047284358 ⟸ XM_047428402 |
- Peptide Label: | isoform X11 |
RefSeq Acc Id: | XP_054227203 ⟸ XM_054371228 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_054227204 ⟸ XM_054371229 |
- Peptide Label: | isoform X9 |
RefSeq Acc Id: | XP_054227199 ⟸ XM_054371224 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054227205 ⟸ XM_054371230 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_054227196 ⟸ XM_054371221 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054227195 ⟸ XM_054371220 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054227198 ⟸ XM_054371223 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054227200 ⟸ XM_054371225 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054227201 ⟸ XM_054371226 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054227202 ⟸ XM_054371227 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_054227197 ⟸ XM_054371222 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054227206 ⟸ XM_054371231 |
- Peptide Label: | isoform X11 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5QGZ9-F1-model_v2 | AlphaFold | Q5QGZ9 | 1-265 | view protein structure |
RGD ID: | 7223141 | ||||||||
Promoter ID: | EPDNEW_H17315 | ||||||||
Type: | initiation region | ||||||||
Name: | CLEC12A_2 | ||||||||
Description: | C-type lectin domain family 12 member A | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H17316 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7223139 | ||||||||
Promoter ID: | EPDNEW_H17316 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | CLEC12A_1 | ||||||||
Description: | C-type lectin domain family 12 member A | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H17315 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:31713 | AgrOrtholog |
COSMIC | CLEC12A | COSMIC |
Ensembl Genes | ENSG00000172322 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000304361 | ENTREZGENE |
ENST00000304361.9 | UniProtKB/Swiss-Prot | |
ENST00000350667 | ENTREZGENE | |
ENST00000350667.4 | UniProtKB/Swiss-Prot | |
ENST00000355690 | ENTREZGENE | |
ENST00000355690.8 | UniProtKB/Swiss-Prot | |
ENST00000396507.7 | UniProtKB/TrEMBL | |
ENST00000434319 | ENTREZGENE | |
ENST00000434319.6 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.10.100.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000172322 | GTEx |
HGNC ID | HGNC:31713 | ENTREZGENE |
Human Proteome Map | CLEC12A | Human Proteome Map |
InterPro | C-type_lectin-like | UniProtKB/Swiss-Prot |
C-type_lectin-like/link_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
CLEC12A/B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
CTDL_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NKR-like_CTLD | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:160364 | UniProtKB/Swiss-Prot |
NCBI Gene | 160364 | ENTREZGENE |
OMIM | 612088 | OMIM |
PANTHER | C-TYPE LECTIN DOMAIN FAMILY 12, MEMBER A | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR47647 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Lectin_C | UniProtKB/Swiss-Prot |
PharmGKB | PA142672094 | PharmGKB |
PROSITE | C_TYPE_LECTIN_2 | UniProtKB/Swiss-Prot |
SMART | CLECT | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF56436 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A8MVL9_HUMAN | UniProtKB/TrEMBL |
B2RA16 | ENTREZGENE | |
CL12A_HUMAN | UniProtKB/Swiss-Prot | |
L8EAV5_HUMAN | UniProtKB/TrEMBL | |
Q5QGZ9 | ENTREZGENE | |
Q6P4H1 | ENTREZGENE | |
Q6RH77 | ENTREZGENE | |
Q6RH78 | ENTREZGENE | |
Q8TDQ6 | ENTREZGENE | |
UniProt Secondary | B2RA16 | UniProtKB/Swiss-Prot |
Q6P4H1 | UniProtKB/Swiss-Prot | |
Q6RH77 | UniProtKB/Swiss-Prot | |
Q6RH78 | UniProtKB/Swiss-Prot | |
Q8TDQ6 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-22 | CLEC12A | C-type lectin domain family 12 member A | C-type lectin domain family 12, member A | Symbol and/or name change | 5135510 | APPROVED |