Product Details

SNP ID

rs111453348

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73686836 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCCAGCTGTGGCACTGGGCTGAG[C/T]GGAAGTTATCTGTCAGATGAAGGGC

Phenotype

MIM: 615733

Polymorphism

C/T, 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	259	Silent Mutation	AGC,AGT	S67S	NP_001189489.1
NM_017528.4	259	Silent Mutation	AGC,AGT	S67S	NP_059998.2
XM_006715847.1	259	Silent Mutation	AGC,AGT	S90S	XP_006715910.1
XM_011515778.1	259	Silent Mutation	AGC,AGT	S90S	XP_011514080.1
XM_011515779.1	259	Silent Mutation	AGC,AGT	S67S	XP_011514081.1

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