Product Details

SNP ID

rs17206679

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48838980 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCACTATCACCCAATTTCCTTGATG[C/G]AGAAGTAGGATCTGCTATTGACCAA

Phenotype

MIM: 612832 MIM: 607769

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HSD17B14 PubMed Links

Gene Details

Gene

HSD17B14

Gene Name

hydroxysteroid 17-beta dehydrogenase 14

There are no transcripts associated with this gene.

Gene

PLEKHA4

Gene Name

pleckstrin homology domain containing A4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161354.1		Intron			NP_001154826.1
NM_020904.2		Intron			NP_065955.2
XM_005259107.2		Intron			XP_005259164.1
XM_006723301.2		Intron			XP_006723364.1
XM_011527157.1		Intron			XP_011525459.1
XM_011527158.2		Intron			XP_011525460.1
XM_011527159.1		Intron			XP_011525461.1
XM_011527160.1		Intron			XP_011525462.1
XM_011527162.2		Intron			XP_011525464.1
XM_017027037.1		Intron			XP_016882526.1

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