Product Details

SNP ID
rs187041865
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27278249 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTTCTGTTGTTGCTGCTGTTTTT[G/T]CTGTGGAGCACTTAAACCACCACCT
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_001303127.1 793 Missense Mutation TGC,TTC C146F NP_001290056.1
NM_001303128.1 793 Missense Mutation GCT,TCT A59S NP_001290057.1
NM_173650.2 793 Missense Mutation TGC,TTC C146F NP_775921.1
XM_006711995.3 793 Missense Mutation TGC,TTC C146F XP_006712058.1
XM_017003872.1 793 Missense Mutation TGC,TTC C146F XP_016859361.1
XM_017003873.1 793 Missense Mutation TGC,TTC C146F XP_016859362.1
XM_017003874.1 793 Missense Mutation TGC,TTC C146F XP_016859363.1
Gene
SLC30A3
Gene Name
solute carrier family 30 member 3
There are no transcripts associated with this gene.

Gene
TRIM54
Gene Name
tripartite motif containing 54
There are no transcripts associated with this gene.

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