Product Details

SNP ID

rs199584005

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:128462648 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCACGCGCTCCTGCCCGTTCTCCA[C/T]GATGCGCTTGGTGGTGACCTTGTGG

Phenotype

MIM: 611337

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNAJB8 PubMed Links

Gene Details

Gene

DNAJB8

Gene Name

DnaJ heat shock protein family (Hsp40) member B8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153330.4	3156	Missense Mutation	ATG,GTG	M200V	NP_699161.1
XM_006713519.3	3156	Missense Mutation	ATG,GTG	M200V	XP_006713582.1

Gene

DNAJB8-AS1

Gene Name

DNAJB8 antisense RNA 1

There are no transcripts associated with this gene.

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