rs1428962120 Rat Genome Database

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Variant: rs1428962120 -  Homo sapiens

RGD ID: 151808668
RS ID: rs1428962120
ClinVar ID: CV1383998
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ISCA2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 74,960,831
GRCh38 14 74,494,128
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001272007.2:c.150C>G
NM_194279.4:c.150C>G
NG_007117.1:g.4254G>C
NG_033074.1:g.5409C>G
More... 		07/18/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ISCA2
Accession:NM_194279
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAWGSSLTAATQRAVTPWPRGRLLTASLGPQARREASSSSPEAGEGQMRLTDSCVQRLLEITEGSEFLRLQVEGGGCS
GFQYKFSLDTVINPDDRVFEQGGARVVVDSDSLAFVKGAQVDFSQELIRSSFQVLNNPQAQQGCSCGSSFSIKL*

Gene Symbol:ISCA2
Accession:NM_001272007
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAWGSSLTAATQRAVTPWPRGRLLTASLGPQARREASSSSPEAGEGQMRLTDSCVQGI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001878045 CLINVAR
dbSNP (RS) rs1428962120 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ISCA2 CLINVAR
OMIM 615317 CLINVAR