Product Details

SNP ID

rs202032381

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48837486 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATCTGGGGGGAGGGGTCTCCTGGC[A/G]CGTGGGGTCCGAAGGAGGCAGCGGC

Phenotype

MIM: 612832 MIM: 607769

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

HSD17B14 PubMed Links

Additional Information

For this assay, SNP(s) [rs34460869] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

HSD17B14

Gene Name

hydroxysteroid 17-beta dehydrogenase 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016246.2	2701	Intron			NP_057330.2
XM_005258969.3	2701	Intron			XP_005259026.1
XM_005258970.3	2701	Intron			XP_005259027.1

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	2701	UTR 3			NP_001154826.1
NM_020904.2	2701	Missense Mutation	CGC,TGC	R715C	NP_065955.2
XM_005259107.2	2701	Missense Mutation	CGC,TGC	R690C	XP_005259164.1
XM_006723301.2	2701	UTR 3			XP_006723364.1
XM_011527157.1	2701	Missense Mutation	CGC,TGC	R719C	XP_011525459.1
XM_011527158.2	2701	Missense Mutation	CGC,TGC	R683C	XP_011525460.1
XM_011527159.1	2701	Missense Mutation	CGC,TGC	R679C	XP_011525461.1
XM_011527160.1	2701	UTR 3			XP_011525462.1
XM_011527162.2	2701	Missense Mutation	CGC,TGC	R370C	XP_011525464.1
XM_017027037.1	2701	Missense Mutation	CGC,TGC	R592C	XP_016882526.1

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