Product Details

SNP ID

rs193139398

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:34883385 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCCCCCACACATATACTCCATGA[C/T]GTCTGACCAGTACTGCACAGGAGTC

Phenotype

MIM: 612491

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

APIP PubMed Links

Gene Details

Gene

APIP

Gene Name

APAF1 interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015957.3	708	Missense Mutation	CAT,CGT	H194R	NP_057041.2
XM_011520154.2	708	Intron			XP_011518456.1
XM_017017875.1	708	Intron			XP_016873364.1

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