Product Details

SNP ID
rs138018963
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:733136 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCACGCCGTGCTGGCCACCGGCT[C/T]GGGGATCGTCATCATTCGCTCCTGC
Phenotype
MIM: 611627
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FAM57A PubMed Links

Gene Details

Gene
FAM57A
Gene Name
family with sequence similarity 57 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318006.1 263 Missense Mutation TCG,TTG S54L NP_001304935.1
NM_001318007.1 263 Missense Mutation TCG,TTG S54L NP_001304936.1
NM_001318008.1 263 Missense Mutation TCG,TTG S54L NP_001304937.1
NM_024792.2 263 Missense Mutation TCG,TTG S54L NP_079068.1

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