Product Details

SNP ID

rs79759109

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:103312934 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAAAATACAACAATCTATAAACGC[G/T]TAAGTCTGCAACCTTGTATCGTTTC

Phenotype

MIM: 605502 MIM: 603131

Polymorphism

G/T, Transversion 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	2167	Intron			NP_001123359.1
NM_014377.1	2167	Intron			NP_055192.1
XM_005250269.2	2167	Intron			XP_005250326.1
XM_011516028.2	2167	Intron			XP_011514330.1
XM_011516029.2	2167	Intron			XP_011514331.1
XM_011516030.2	2167	Intron			XP_011514332.1
XM_017011968.1	2167	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	2167	UTR 3			NP_004270.2
XM_005250717.3	2167	Intron			XP_005250774.1
XM_006716181.3	2167	Intron			XP_006716244.1

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