Product Details

SNP ID

rs199576566

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:103344621 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCGCGGCGCTTGGCAGAAGCAGC[A/T]TGATGGCGCCGGGTCTAGCCCGGTG

Phenotype

MIM: 605502 MIM: 154365 MIM: 604943

Polymorphism

A/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	156	Missense Mutation	AAG,ATG	K1M	NP_001123359.1
NM_014377.1	156	Missense Mutation	AAG,ATG	K1M	NP_055192.1
XM_005250269.2	156	UTR 5			XP_005250326.1
XM_011516028.2	156	UTR 5			XP_011514330.1
XM_011516029.2	156	UTR 5			XP_011514331.1
XM_011516030.2	156	Intron			XP_011514332.1
XM_017011968.1	156	UTR 5			XP_016867457.1

Gene

PSMC2

Gene Name

proteasome 26S subunit, ATPase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204453.1	156	Intron			NP_001191382.1
NM_002803.3	156	Intron			NP_002794.1
XM_005250505.1	156	Intron			XP_005250562.1

Gene

SLC26A5

Gene Name

solute carrier family 26 member 5

There are no transcripts associated with this gene.

View Full Product Details