Product Details

SNP ID
rs149442100
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:85395568 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTCGGGGCGTACTGCATGCGCGA[A/G]ATGAAGCCCTCGGCCACCTGCAGGG
Phenotype
MIM: 153615 MIM: 615427
Polymorphism
A/G, Transition 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 1031 Silent Mutation ATC,ATT I317I NP_001243068.1
NM_001256140.1 1031 Silent Mutation ATC,ATT I302I NP_001243069.1
NM_001320732.1 1031 Silent Mutation ATC,ATT I317I NP_001307661.1
NM_001320733.1 1031 Silent Mutation ATC,ATT I317I NP_001307662.1
NM_001320734.1 1031 Silent Mutation ATC,ATT I286I NP_001307663.1
NM_001747.3 1031 Silent Mutation ATC,ATT I317I NP_001738.2
XM_011533122.1 1031 Silent Mutation ATC,ATT I317I XP_011531424.1
XM_011533123.1 1031 Silent Mutation ATC,ATT I317I XP_011531425.1
Gene
ELMOD3
Gene Name
ELMO domain containing 3
There are no transcripts associated with this gene.

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