RGD:15175733 Rat Genome Database

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Variant: RGD:15175733 -  Homo sapiens

RGD ID: 15175733
RS ID: rs183441903
ClinVar ID: CV731695
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA14  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 150,236,264
GRCh38 1 150,263,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012113.3:c.934G>A
NG_029952.1:g.10346C>T
NC_000001.11:g.150263865G>A
NC_000001.10:g.150236264G>A
More... 		01/05/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CA14
Accession:NM_012113
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 312
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFSALLLEVIWILAADGGQHWTYEGPHGQDHWPASYPECGNNAQSPIDIQTDSVTFDPDLPALQPHGYDQPGTEPLDLH
NNGHTVQLSLPSTLYLGGLPRKYVAAQLHLHWGQKGSPGGSEHQINSEATFAELHIVHYDSDSYDSLSEAAERPQGLAVL
GILIEVGETKNIAYEHILSHLHEVRHKDQKTSVPPFNLRELLPKQLGQYFRYNGSLTTPPCYQSVLWTVFYRRSQISMEQ
LEKLQGTLFSTEEEPSKLLVQNYRALQPLNQRMVFASFIQAGSSYTTGEMLSLGVGILVGCLCLLLAVYFITRKIRKKRL
ENRKSVVFTSAQATTEA*

Gene Symbol:CA14
Accession:XM_006711261
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 256
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVNTGRMRPHGYDQPGTEPLDLHNNGHTVQLSLPSTLYLGGLPRKYVAAQLHLHWGQKGSPGGSEHQINSEATFAELHI
VHYDSDSYDSLSEAAERPQGLAVLGILIEVGETKNIAYEHILSHLHEVRHKDQKTSVPPFNLRELLPKQLGQYFRYNGSL
TTPPCYQSVLWTVFYRRSQISMEQLEKLQGTLFSTEEEPSKLLVQNYRALQPLNQRMVFASFIQAGSSYTTGEMLSLGVG
ILVGCLCLLLAVYFITRKIRKKRLENRKSVVFTSAQATTEA*

Gene Symbol:CA14
Accession:XM_017000894
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFSALLLEVIWILAADGGQHWTYEGPHGQDHWPASYPECGNNAQSPIDIQTDSVTFDPDLPALQPHGYDQPGTEPLDLH
NNGHTVQLSLPSTLYLGGLPRKYVAAQLHLHWGQKGSPGGSEHQINSEATFAELHIVHYDSDSYDSLSEAAERPQGLAVL
GILIELEKLQGTLFSTEEEPSKLLVQNYRALQPLNQRMVFASFIQAGSSYTTGEMLSLGVGILVGCLCLLLAVYFITRKI
RKKRLENRKSVVFTSAQATTEA*

Gene Symbol:CA14
Accession:XM_005245059
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFSALLLEVIWILAADGGQHWTYEGPHGQDHWPASYPECGNNAQSPIDIQTDSVTFDPDLPALQPHGYDQPGTEPLDLH
NNGHTVQLSLPSTLYLGGLPRKYVAAQLHLHWGQKGSPGGSEHQINSEATFAELHIVHYDSDSYDSLSEAAERPQGLAVL
GILIEVGETKNIAYEHILSHLHEVRHKDQKTSVPPFNLRELLPKQLGQYFRYNGSLTTPPCYQSVLWTVFYRRSQISMEQ
LEKLQGTLFSTEEEPSKLLVQNYRALQPLNQRMVFASFIQGSSYTTGEMLSLGVGILVGCLCLLLAVYFITRKIRKKRLE
NRKSVVFTSAQATTEA*

Gene Symbol:CA14
Accession:XM_011509379
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFSALLLEVIWILAADGGQHWTYEGEQISRPPDNPFTLGPPHLAGRHTVRPHGYDQPGTEPLDLHNNGHTVQLSLPSTL
YLGGLPRKYVAAQLHLHWGQKGSPGGSEHQINSEATFAELHIVHYDSDSYDSLSEAAERPQGLAVLGILIEVGETKNIAY
EHILSHLHEVRHKDQKTSVPPFNLRELLPKQLGQYFRYNGSLTTPPCYQSVLWTVFYRRSQISMEQLEKLQGTLFSTEEE
PSKLLVQNYRALQPLNQRMVFASFIQAGSSYTTGEMLSLGVGILVGCLCLLLAVYFITRKIRKKRLENRKSVVFTSAQAT
TEA*

Gene Symbol:CA14
Accession:XM_006711259
Location:INTRON

Gene Symbol:CA14
Accession:XM_005245060
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000906282 CLINVAR
dbSNP (RS) rs183441903 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CA14 CLINVAR
OMIM 604832 CLINVAR