Product Details

SNP ID
rs193280469
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:85398734 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGCATTTGCCTTGTCAGCTGTGA[C/G]GTCTTCCTCAGGGTTGCCCTCCTTC
Phenotype
MIM: 153615 MIM: 615427
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CAPG PubMed Links

Gene Details

Gene
CAPG
Gene Name
capping actin protein, gelsolin like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256139.1 795 Missense Mutation CTC,GTC L239V NP_001243068.1
NM_001256140.1 795 Missense Mutation CTC,GTC L224V NP_001243069.1
NM_001320732.1 795 Missense Mutation CTC,GTC L239V NP_001307661.1
NM_001320733.1 795 Missense Mutation CTC,GTC L239V NP_001307662.1
NM_001320734.1 795 Intron NP_001307663.1
NM_001747.3 795 Missense Mutation CTC,GTC L239V NP_001738.2
XM_011533122.1 795 Missense Mutation CTC,GTC L239V XP_011531424.1
XM_011533123.1 795 Missense Mutation CTC,GTC L239V XP_011531425.1
Gene
ELMOD3
Gene Name
ELMO domain containing 3
There are no transcripts associated with this gene.

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