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SNP ID

rs148976481

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:186572126 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCTATAAGATCTTGGGGGTGCCT[C/T]GAAGTGCCTCTATAAAGGATATTAA

Phenotype

MIM: 611341

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNAJB11 PubMed Links

Gene Details

Gene

DNAJB11

Gene Name

DnaJ heat shock protein family (Hsp40) member B11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016306.5	322	Nonsense Mutation	CGA,TGA	R34*	NP_057390.1

Gene

TBCCD1

Gene Name

TBCC domain containing 1

There are no transcripts associated with this gene.

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