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SNP ID

rs202119401

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:34993271 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTACAAGATTCTTGGGATCCCAT[C/T]GGGGGCCAACGAGGATGAGATCAAG

Phenotype

MIM: 611328

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNAJB5 PubMed Links

Gene Details

Gene

DNAJB5

Gene Name

DnaJ heat shock protein family (Hsp40) member B5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135004.2	182	Missense Mutation	TCG,TTG	S127L	NP_001128476.2
NM_001135005.2	182	Missense Mutation	TCG,TTG	S85L	NP_001128477.1
NM_012266.5	182	Missense Mutation	TCG,TTG	S13L	NP_036398.3
XM_005251428.3	182	Missense Mutation	TCG,TTG	S13L	XP_005251485.1
XM_006716751.2	182	Missense Mutation	TCG,TTG	S13L	XP_006716814.1
XM_011517842.2	182	Missense Mutation	TCG,TTG	S85L	XP_011516144.1

Gene

DNAJB5-AS1

Gene Name

DNAJB5 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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