Product Details

SNP ID
rs200837892
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:67435705 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCACGGTGCTGGCCACCGTATTG[A/G]AGTTGAACAGCCCCGGTGCCATCGA
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
There are no transcripts associated with this gene.

Gene
HSD11B2
Gene Name
hydroxysteroid 11-beta dehydrogenase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000196.3 459 Missense Mutation AAG,GAG K115E NP_000187.3

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