Product Details

SNP ID

rs149722587

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:14506214 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGTTAGGTGAGTTCAGGTCCTCA[C/G]GGCAGCAGATGGTATTACAGGGGTC

Phenotype

MIM: 613644

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ATF7IP PubMed Links

Gene Details

Gene

ATF7IP

Gene Name

activating transcription factor 7 interacting protein

There are no transcripts associated with this gene.

Gene

PLBD1

Gene Name

phospholipase B domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024829.5	1588	Missense Mutation	CCT,CGT	P476R	NP_079105.4

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