Product Details

SNP ID
rs138075495
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:67439310 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCACATGGCATCAGCCGTAGTCCC[A/G]CCCAGTAGGGTGCAGAACTTGTAGA
Phenotype
MIM: 607028 MIM: 614232
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ATP6V0D1 PubMed Links

Gene Details

Gene
ATP6V0D1
Gene Name
ATPase H+ transporting V0 subunit d1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004691.4 595 Silent Mutation GGC,GGT G201G NP_004682.2
XM_011523444.1 595 Silent Mutation GGC,GGT G124G XP_011521746.1
XM_011523445.1 595 Silent Mutation GGC,GGT G124G XP_011521747.1
XM_011523446.1 595 Silent Mutation GGC,GGT G124G XP_011521748.1
Gene
HSD11B2
Gene Name
hydroxysteroid 11-beta dehydrogenase 2
There are no transcripts associated with this gene.

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