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CTTCTCAAGTGGCCATCCAGACTCA[A/G]GCTGTGCAGGATAAGGCTTCCTTAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603355 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HSDL1 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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HSDL1 - hydroxysteroid dehydrogenase like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001146051.1 | 1009 | Silent Mutation | GCC,GCT | A,A 275 | NP_001139523.1 | |
NM_031463.4 | 1009 | Silent Mutation | GCC,GCT | A,A 330 | NP_113651.4 | |
XM_005256189.2 | 1009 | Silent Mutation | GCC,GCT | A,A 330 | XP_005256246.1 |
LOC729887 - uncharacterized LOC729887 | ||||||
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There are no transcripts associated with this gene. |
MBTPS1 - membrane bound transcription factor peptidase, site 1 | ||||||
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There are no transcripts associated with this gene. |