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SNP ID

rs143245353

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219283431 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTCTCCCACAGAATCATGGAGAA[C/T]GGGCAGGAGCGGGTGGAAGTGGAGG

Phenotype

MIM: 604139 MIM: 601773

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNAJB2 PubMed Links

Gene Details

Gene

DNAJB2

Gene Name

DnaJ heat shock protein family (Hsp40) member B2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039550.1	798	Silent Mutation	AAC,AAT	N187N	NP_001034639.1
NM_006736.5	798	Silent Mutation	AAC,AAT	N187N	NP_006727.2

Gene

PTPRN

Gene Name

protein tyrosine phosphatase, receptor type N

There are no transcripts associated with this gene.

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