Product Details
- SNP ID
-
rs201428999
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:48838110 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGGTGACCTTCGGAAGTCGGCAAGT[A/G]AGGGGTGGTGTTCCTTGGACTAGAA
- Phenotype
-
MIM: 612832
MIM: 607769
- Polymorphism
- A/G, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
HSD17B14
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs556440802] are located under a primer 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
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 |
2542 |
Missense Mutation |
TCA,TTA |
S563L |
NP_001154826.1 |
| NM_020904.2 |
2542 |
Missense Mutation |
CAC,TAC |
H662Y |
NP_065955.2 |
| XM_005259107.2 |
2542 |
Missense Mutation |
CAC,TAC |
H637Y |
XP_005259164.1 |
| XM_006723301.2 |
2542 |
Missense Mutation |
TCA,TTA |
S617L |
XP_006723364.1 |
| XM_011527157.1 |
2542 |
Missense Mutation |
CAC,TAC |
H666Y |
XP_011525459.1 |
| XM_011527158.2 |
2542 |
Missense Mutation |
CAC,TAC |
H630Y |
XP_011525460.1 |
| XM_011527159.1 |
2542 |
Missense Mutation |
CAC,TAC |
H626Y |
XP_011525461.1 |
| XM_011527160.1 |
2542 |
Missense Mutation |
TCA,TTA |
S646L |
XP_011525462.1 |
| XM_011527162.2 |
2542 |
Missense Mutation |
CAC,TAC |
H317Y |
XP_011525464.1 |
| XM_017027037.1 |
2542 |
Missense Mutation |
CAC,TAC |
H539Y |
XP_016882526.1 |
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