Product Details

SNP ID

rs142291500

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:34882782 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAAGTCCTACTTTCTTCATTGATA[A/C]GGCAATATCAAATAAATAGTCATAA

Phenotype

MIM: 612491

Polymorphism

A/C, Transversion 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	791	Missense Mutation	ATA,GTA	I222V	NP_057041.2
XM_011520154.2	791	Intron			XP_011518456.1
XM_017017875.1	791	Intron			XP_016873364.1

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