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SNP ID

rs200292314

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:128462596 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTCCTTGCCGTTCACAGTCACC[A/G]ACTTGAGCTGCCCGTCTTCCTCCAC

Phenotype

MIM: 611337

Polymorphism

A/G, 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	3208	Missense Mutation	TCG,TTG	S217L	NP_699161.1
XM_006713519.3	3208	Missense Mutation	TCG,TTG	S217L	XP_006713582.1

Gene

DNAJB8-AS1

Gene Name

DNAJB8 antisense RNA 1

There are no transcripts associated with this gene.

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