Product Details

SNP ID

rs117562567

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73692600 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATGTTCCTGTTTCTTTCAGGTCC[A/G]GGGATCCCGAGCTGTCCTGCAGCTG

Phenotype

MIM: 186590 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

STX1A

Gene Name

syntaxin 1A

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	522	Missense Mutation	CAG,CGG	Q155R	NP_001189489.1
NM_017528.4	522	Missense Mutation	CAG,CGG	Q155R	NP_059998.2
XM_006715847.1	522	Missense Mutation	CAG,CGG	Q178R	XP_006715910.1
XM_011515778.1	522	Missense Mutation	CAG,CGG	Q178R	XP_011514080.1
XM_011515779.1	522	Missense Mutation	CAG,CGG	Q155R	XP_011514081.1

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