RGD:15188099 Rat Genome Database

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Variant: RGD:15188099 -  Homo sapiens

RGD ID: 15188099
RS ID: rs1592171646
ClinVar ID: CV702399
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNRNPA1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 54,676,080
GRCh38 12 54,282,296
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002136.4:c.486T>C
NM_031157.4:c.486T>C
NG_033830.1:g.6593T>C
NC_000012.12:g.54282296T>C
More... 		07/07/2018 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HNRNPA1
Accession:NM_031157
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKSESPKEPEQLRKLFIGGLSFETTDESLRSHFEQWGTLTDCVVMRDPNTKRSRGFGFVTYATVEEVDAAMNARPHKVD
GRVVEPKRAVSREDSQRPGAHLTVKKIFVGGIKEDTEEHHLRDYFEQYGKIEVIEIMTDRGSGKKRGFAFVTFDDHDSVD
KIVIQKYHTVNGHNCEVRKALSKQEMASASSSQRGRSGSGNFGGGRGGGFGGNDNFGRGGNFSGRGGFGGSRGGGGYGGS
GDGYNGFGNDGGYGGGGPGYSGGSRGYGSGGQGYGNQGSGYGGSGSYDSYNNGGGGGFGGGSGSNFGGGGSYNDFGNYNN
QSSNFGPMKGGNFGGRSSGPYGGGGQYFAKPRNQGGYGGSSSSSSYGSGRRF*

Gene Symbol:HNRNPA1
Accession:NM_002136
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKSESPKEPEQLRKLFIGGLSFETTDESLRSHFEQWGTLTDCVVMRDPNTKRSRGFGFVTYATVEEVDAAMNARPHKVD
GRVVEPKRAVSREDSQRPGAHLTVKKIFVGGIKEDTEEHHLRDYFEQYGKIEVIEIMTDRGSGKKRGFAFVTFDDHDSVD
KIVIQKYHTVNGHNCEVRKALSKQEMASASSSQRGRSGSGNFGGGRGGGFGGNDNFGRGGNFSGRGGFGGSRGGGGYGGS
GDGYNGFGNDGSNFGGGGSYNDFGNYNNQSSNFGPMKGGNFGGRSSGPYGGGGQYFAKPRNQGGYGGSSSSSSYGSGRRF
*

Gene Symbol:HNRNPA1
Accession:NR_135167
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000953781 CLINVAR
dbSNP (RS) rs1592171646 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene HNRNPA1 CLINVAR
OMIM 164017 CLINVAR