Product Details

SNP ID
rs145038577
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48837233 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCCCTGAGTGGTCCCAGATCTCC[A/G]GCGGTACCTCCAGACCACGTCCTCG
Phenotype
MIM: 612832 MIM: 607769
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HSD17B14 PubMed Links

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 2954 Intron NP_057330.2
XM_005258969.3 2954 Intron XP_005259026.1
XM_005258970.3 2954 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 2954 UTR 3 NP_001154826.1
NM_020904.2 2954 UTR 3 NP_065955.2
XM_005259107.2 2954 UTR 3 XP_005259164.1
XM_006723301.2 2954 UTR 3 XP_006723364.1
XM_011527157.1 2954 UTR 3 XP_011525459.1
XM_011527158.2 2954 UTR 3 XP_011525460.1
XM_011527159.1 2954 UTR 3 XP_011525461.1
XM_011527160.1 2954 UTR 3 XP_011525462.1
XM_011527162.2 2954 UTR 3 XP_011525464.1
XM_017027037.1 2954 UTR 3 XP_016882526.1

View Full Product Details