Product Details

SNP ID
rs139053079
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:46062866 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCAGCGAGGCACCCGAGGTCGCCC[C/T]GAGTGGTTGGCGGGAAATCGGGCCT
Phenotype
MIM: 616825 MIM: 606726
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NCOA5 PubMed Links

Gene Details

Gene
NCOA5
Gene Name
nuclear receptor coactivator 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020967.2 1305 Missense Mutation AGG,GGG R392G NP_066018.1
XM_005260474.3 1305 Missense Mutation AGG,GGG R287G XP_005260531.1
XM_011528951.2 1305 Silent Mutation TCA,TCG S399S XP_011527253.1
XM_017027988.1 1305 Silent Mutation TCA,TCG S294S XP_016883477.1
Gene
SLC12A5
Gene Name
solute carrier family 12 member 5
There are no transcripts associated with this gene.

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