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GGGGAGGACGCCGTGGCCTCTGTGC[C/T]GGACGTGAATGTAGTAGGGACTGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609855 MIM: 109684 MIM: 609701 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COASY 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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COASY - Coenzyme A synthase | ||||||
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There are no transcripts associated with this gene. |
HSD17B1 - hydroxysteroid 17-beta dehydrogenase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000413.2 | 1063 | Missense Mutation | CCG,CTG | P,L 112 | NP_000404.2 | |
XM_005257292.3 | 1063 | Missense Mutation | CCG,CTG | P,L 143 | XP_005257349.1 | |
XM_006721857.3 | 1063 | Missense Mutation | CCG,CTG | P,L 143 | XP_006721920.1 | |
XM_006721858.3 | 1063 | Missense Mutation | CCG,CTG | P,L 143 | XP_006721921.1 | |
XM_006721859.3 | 1063 | Missense Mutation | CCG,CTG | P,L 143 | XP_006721922.1 | |
XM_011524729.1 | 1063 | Missense Mutation | CCG,CTG | P,L 112 | XP_011523031.1 | |
XM_011524730.1 | 1063 | Missense Mutation | CCG,CTG | P,L 112 | XP_011523032.1 | |
XM_011524731.1 | 1063 | Missense Mutation | CCG,CTG | P,L 112 | XP_011523033.1 | |
XM_011524732.2 | 1063 | Missense Mutation | CCG,CTG | P,L 143 | XP_011523034.1 |
NAGLU - N-acetyl-alpha-glucosaminidase | ||||||
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There are no transcripts associated with this gene. |