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Search Thermo Fisher Scientific
CTGGGGGGAGGGGTCTCCTGGCGCG[C/T]GGGGTCCGAAGGAGGCAGCGGCACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612832 MIM: 607769 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HSD17B14 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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HSD17B14 - hydroxysteroid 17-beta dehydrogenase 14 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016246.2 | 2698 | Intron | NP_057330.2 | |||
XM_005258969.3 | 2698 | Intron | XP_005259026.1 | |||
XM_005258970.3 | 2698 | Intron | XP_005259027.1 |
PLEKHA4 - pleckstrin homology domain containing A4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001161354.1 | 2698 | UTR 3 | NP_001154826.1 | |||
NM_020904.2 | 2698 | Missense Mutation | ACG,GCG | T,A 714 | NP_065955.2 | |
XM_005259107.2 | 2698 | Missense Mutation | ACG,GCG | T,A 689 | XP_005259164.1 | |
XM_006723301.2 | 2698 | UTR 3 | XP_006723364.1 | |||
XM_011527157.1 | 2698 | Missense Mutation | ACG,GCG | T,A 718 | XP_011525459.1 | |
XM_011527158.2 | 2698 | Missense Mutation | ACG,GCG | T,A 682 | XP_011525460.1 | |
XM_011527159.1 | 2698 | Missense Mutation | ACG,GCG | T,A 678 | XP_011525461.1 | |
XM_011527160.1 | 2698 | UTR 3 | XP_011525462.1 | |||
XM_011527162.2 | 2698 | Missense Mutation | ACG,GCG | T,A 369 | XP_011525464.1 | |
XM_017027037.1 | 2698 | Missense Mutation | ACG,GCG | T,A 591 | XP_016882526.1 |