Product Details

SNP ID

rs138711754

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73683108 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCCGCGATCATACTTGCGACGGA[C/G]GGTGGCACTGCCCAGCACCACGTAG

Phenotype

MIM: 615733

Polymorphism

C/G, 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	344	Missense Mutation	CTC,GTC	L106V	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	344	Intron			NP_001189489.1
NM_017528.4	344	Intron			NP_059998.2
XM_006715847.1	344	Intron			XP_006715910.1
XM_011515778.1	344	Intron			XP_011514080.1
XM_011515779.1	344	Intron			XP_011514081.1

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