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TGAGAACCCGCTCCCGGTGACCTTC[A/G]GAAGTCGGCAAGTAAGGGGTGGTGT
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
HSD17B14 - hydroxysteroid 17-beta dehydrogenase 14 | ||||||
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There are no transcripts associated with this gene. |
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 | 2556 | Nonsense Mutation | CGA,TGA | R,* 568 | NP_001154826.1 | |
NM_020904.2 | 2556 | Silent Mutation | TCC,TCT | S,S 666 | NP_065955.2 | |
XM_005259107.2 | 2556 | Silent Mutation | TCC,TCT | S,S 641 | XP_005259164.1 | |
XM_006723301.2 | 2556 | Nonsense Mutation | CGA,TGA | R,* 622 | XP_006723364.1 | |
XM_011527157.1 | 2556 | Silent Mutation | TCC,TCT | S,S 670 | XP_011525459.1 | |
XM_011527158.2 | 2556 | Silent Mutation | TCC,TCT | S,S 634 | XP_011525460.1 | |
XM_011527159.1 | 2556 | Silent Mutation | TCC,TCT | S,S 630 | XP_011525461.1 | |
XM_011527160.1 | 2556 | Nonsense Mutation | CGA,TGA | R,* 651 | XP_011525462.1 | |
XM_011527162.2 | 2556 | Silent Mutation | TCC,TCT | S,S 321 | XP_011525464.1 | |
XM_017027037.1 | 2556 | Silent Mutation | TCC,TCT | S,S 543 | XP_016882526.1 |