Product Details

SNP ID

rs17005979

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27276739 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTCTGGCTCAGATCATGTCTACTG[G/T]GAAGGAAGCAGCACACCGGCTGTCC

Phenotype

MIM: 613946 MIM: 602878 MIM: 606474

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

DNAJC5G PubMed Links

Gene Details

Gene

DNAJC5G

Gene Name

DnaJ heat shock protein family (Hsp40) member C5 gamma

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303127.1	367	Missense Mutation	GGG,GTG	G4V	NP_001290056.1
NM_001303128.1	367	Missense Mutation	GGG,GTG	G4V	NP_001290057.1
NM_173650.2	367	Missense Mutation	GGG,GTG	G4V	NP_775921.1
XM_006711995.3	367	Missense Mutation	GGG,GTG	G4V	XP_006712058.1
XM_017003872.1	367	Missense Mutation	GGG,GTG	G4V	XP_016859361.1
XM_017003873.1	367	Missense Mutation	GGG,GTG	G4V	XP_016859362.1
XM_017003874.1	367	Missense Mutation	GGG,GTG	G4V	XP_016859363.1

Gene

SLC30A3

Gene Name

solute carrier family 30 member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318949.1	367	Intron			NP_001305878.1
NM_001318950.1	367	Intron			NP_001305879.1
NM_001318951.1	367	Intron			NP_001305880.1
NM_003459.4	367	Intron			NP_003450.2
XM_005264547.1	367	Intron			XP_005264604.1
XM_005264548.3	367	Intron			XP_005264605.1
XM_006712100.2	367	Intron			XP_006712163.1
XM_011533102.2	367	Intron			XP_011531404.1
XM_011533103.2	367	Intron			XP_011531405.1
XM_017004873.1	367	Intron			XP_016860362.1
XM_017004874.1	367	Intron			XP_016860363.1
XM_017004875.1	367	Intron			XP_016860364.1

Gene

TRIM54

Gene Name

tripartite motif containing 54

There are no transcripts associated with this gene.

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