Product Details

SNP ID

rs1056750

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.7:73681040 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

AATACATTGAGTGCAGGAATGGCAC[A/G]CAATGATTGCACTCAGTAATATACC

Phenotype

MIM: 610039 MIM: 615733

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DNAJC30 PubMed Links

Gene Details

Gene

DNAJC30

Gene Name

DnaJ heat shock protein family (Hsp40) member C30

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032317.2	2412	UTR 3			NP_115693.2

Gene

VPS37D

Gene Name

VPS37D, ESCRT-I subunit

There are no transcripts associated with this gene.

Gene

WBSCR22

Gene Name

Williams-Beuren syndrome chromosome region 22

There are no transcripts associated with this gene.

View Full Product Details