RGD:15106390 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:15106390 -  Homo sapiens

RGD ID: 15106390
RS ID: rs201427665
ClinVar ID: CV784976
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA12  LOC124903506  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 63,618,488
GRCh38 15 63,326,289
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_206925.3:c.1028C>T
NM_001293642.2:c.848C>T
NP_996808.1:p.Ala343Val
NG_028022.2:g.60878C>T
More...
10/23/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CA12
Accession:NM_206925
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRRSLHAAAVLLLVILKEQPSSPAPVNGSKWTYFGPDGENSWSKKYPSCGGLLQSPIDLHSDILQYDASLTPLEFQGYN
LSANKQFLLTNNGHSVKLNLPSDMHIQGLQSRYSATQLHLHWGNPNDPHGSEHTVSGQHFAAELHIVHYNSDLYPDASTA
SNKSEGLAVLAVLIEMGSFNPSYDKIFSHLQHVKYKGQEAFVPGFNIEELLPERTAEYYRYRGSLTTPPCNPTVLWTVFR
NPVQISQEQLLALETALYCTHMDDPSPREMINNFRQVQKFDERLVYTSFSQGIILSLALAGILGICIVVVVSIWLFRRKS
IKKGDNKGVIYKPATKMETEAHV*

Gene Symbol:CA12
Accession:NM_001218
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRRSLHAAAVLLLVILKEQPSSPAPVNGSKWTYFGPDGENSWSKKYPSCGGLLQSPIDLHSDILQYDASLTPLEFQGYN
LSANKQFLLTNNGHSVKLNLPSDMHIQGLQSRYSATQLHLHWGNPNDPHGSEHTVSGQHFAAELHIVHYNSDLYPDASTA
SNKSEGLAVLAVLIEMGSFNPSYDKIFSHLQHVKYKGQEAFVPGFNIEELLPERTAEYYRYRGSLTTPPCNPTVLWTVFR
NPVQISQEQLLALETALYCTHMDDPSPREMINNFRQVQKFDERLVYTSFSQVQVCTAAGLSLGIILSLALAGILGICIVV
VVSIWLFRRKSIKKGDNKGVIYKPATKMETEAHV*

Gene Symbol:CA12
Accession:NM_001293642
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRRSLHAAAVLLLVILKEQPSSPAPVNGSKWTYFVKLNLPSDMHIQGLQSRYSATQLHLHWGNPNDPHGSEHTVSGQHF
AAELHIVHYNSDLYPDASTASNKSEGLAVLAVLIEMGSFNPSYDKIFSHLQHVKYKGQEAFVPGFNIEELLPERTAEYYR
YRGSLTTPPCNPTVLWTVFRNPVQISQEQLLALETALYCTHMDDPSPREMINNFRQVQKFDERLVYTSFSQGIILSLALA
GILGICIVVVVSIWLFRRKSIKKGDNKGVIYKPATKMETEAHV*

Gene Symbol:CA12
Accession:NR_135511
Location:EXON;NON-CODING

Gene Symbol:LOC124903506
Accession:XR_007064676
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000976623 CLINVAR
dbSNP (RS) rs201427665 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CA12 CLINVAR
OMIM 603263 CLINVAR