Product Details

SNP ID

rs138853656

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67435990 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCTCGTCAACAACGCAGGCCACA[A/G]TGAAGTAGTTGCTGATGCGGAGCTG

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	628	Missense Mutation	AAT,AGT	N171S	NP_000187.3

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