Product Details

SNP ID
rs140045130
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:73683281 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACGCCGAGCAGATCATACAGCGCC[G/T]TGCGCGAATACGAGCAGTCGCCCTG
Phenotype
MIM: 615733
Polymorphism
G/T, Transversion 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_032317.2 171 Missense Mutation NP_115693.2
Gene
WBSCR22
Gene Name
Williams-Beuren syndrome chromosome region 22
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001202560.2 171 Intron NP_001189489.1
NM_017528.4 171 Intron NP_059998.2
XM_006715847.1 171 Intron XP_006715910.1
XM_011515778.1 171 Intron XP_011514080.1
XM_011515779.1 171 Intron XP_011514081.1

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