Product Details

SNP ID
rs2294015
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:123684627 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TGTCTTACCTCGGCCCTGGTCACGA[C/T]TATGCGAATCAACGTCTCCTCATCG
Phenotype
MIM: 602573
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ANXA13 PubMed Links

Gene Details

Gene
ANXA13
Gene Name
annexin A13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001003954.2 906 Missense Mutation ATC,GTC I313V NP_001003954.1
NM_004306.3 906 Missense Mutation ATC,GTC I272V NP_004297.2

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