Product Details

SNP ID

rs142475607

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67440043 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAAAGAATAAAAAAACAGGTGTC[C/T]GTAGGCTGGTGAGGAAAGGCCACGC

Phenotype

MIM: 607028 MIM: 614232

Polymorphism

C/T, 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		Intron			NP_004682.2
XM_011523444.1		Intron			XP_011521746.1
XM_011523445.1		Intron			XP_011521747.1
XM_011523446.1		Intron			XP_011521748.1

Gene

HSD11B2

Gene Name

hydroxysteroid 11-beta dehydrogenase 2

There are no transcripts associated with this gene.

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