Product Details

SNP ID
rs200632856
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:73687079 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCATCCCATTCAAGCCAGGCACA[A/T]TTGATGGTTGCATCAGGTGAGGGTC
Phenotype
MIM: 615733
Polymorphism
A/T, Transversion 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_001202560.2 404 Missense Mutation ATT,TTT I116F NP_001189489.1
NM_017528.4 404 Missense Mutation ATT,TTT I116F NP_059998.2
XM_006715847.1 404 Missense Mutation ATT,TTT I139F XP_006715910.1
XM_011515778.1 404 Missense Mutation ATT,TTT I139F XP_011514080.1
XM_011515779.1 404 Missense Mutation ATT,TTT I116F XP_011514081.1

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