Product Details

SNP ID

rs143321630

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:122232869 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGGCCCTGGGAGGATGCGGAGGA[A/C]CTCCTCGATGCTCCGCCAGCCAGGC

Phenotype

MIM: 605219 MIM: 610034

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DIABLO PubMed Links

Gene Details

Gene

DIABLO

Gene Name

diablo IAP-binding mitochondrial protein

There are no transcripts associated with this gene.

Gene

LOC101593348

Gene Name

uncharacterized LOC101593348

There are no transcripts associated with this gene.

Gene

VPS33A

Gene Name

VPS33A, CORVET/HOPS core subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022916.4	1653	Missense Mutation	GTC,TTC	V514F	NP_075067.2

View Full Product Details