Product Details

SNP ID

rs142852600

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73686645 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTCTGCCTTACCAGCTCACGGAT[A/G]ATTGATATCCAGACCAGGATGGCTG

Phenotype

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

There are no transcripts associated with this gene.

Gene

WBSCR22

Gene Name

Williams-Beuren syndrome chromosome region 22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202560.2	154	Missense Mutation	ATA,ATG	I32M	NP_001189489.1
NM_017528.4	154	Missense Mutation	ATA,ATG	I32M	NP_059998.2
XM_006715847.1	154	Missense Mutation	ATA,ATG	I55M	XP_006715910.1
XM_011515778.1	154	Missense Mutation	ATA,ATG	I55M	XP_011514080.1
XM_011515779.1	154	Missense Mutation	ATA,ATG	I32M	XP_011514081.1

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