Product Details

SNP ID

rs76367182

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:103317028 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTTCTTCTATCTGCACAAATATC[A/G]TAAGTCAGGGACTTAGAAGTATACT

Phenotype

MIM: 605502 MIM: 603131

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DNAJC2 PubMed Links

Gene Details

Gene

DNAJC2

Gene Name

DnaJ heat shock protein family (Hsp40) member C2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001129887.1		Intron			NP_001123359.1
NM_014377.1		Intron			NP_055192.1
XM_005250269.2		Intron			XP_005250326.1
XM_011516028.2		Intron			XP_011514330.1
XM_011516029.2		Intron			XP_011514331.1
XM_011516030.2		Intron			XP_011514332.1
XM_017011968.1		Intron			XP_016867457.1

Gene

PMPCB

Gene Name

peptidase, mitochondrial processing beta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004279.2		Intron			NP_004270.2
XM_005250717.3		Intron			XP_005250774.1
XM_006716181.3		Intron			XP_006716244.1

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