Product Details

SNP ID

rs12296243

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:56752648 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TAAAAAGGATGCTCCACGTGAACTT[C/T]TTGGATGTTTTAGAAATAACACCAG

Phenotype

MIM: 606623 MIM: 176635

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HSD17B6 PubMed Links

Gene Details

Gene

HSD17B6

Gene Name

hydroxysteroid 17-beta dehydrogenase 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003725.3		Intron			NP_003716.2
XM_005269207.1		Intron			XP_005269264.1
XM_005269208.1		Intron			XP_005269265.1
XM_005269209.1		Intron			XP_005269266.1
XM_006719672.1		Intron			XP_006719735.1
XM_011538925.1		Intron			XP_011537227.1
XM_011538926.1		Intron			XP_011537228.1
XM_011538927.1		Intron			XP_011537229.1

Gene

PRIM1

Gene Name

primase (DNA) subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000946.2		Intron			NP_000937.1

View Full Product Details