Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCTTCGGTGTCACTCACAGAGAGT[C/T]TATCATGAATGTCAATGTGAAAGGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
16 submissions
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Phenotype: |
MIM: 109715 | ||||||||||||||||||||
Literature Links: |
HSD3B1 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 |
HSD3B1 - hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000862.2 | 432 | Missense Mutation | TCT,TTT | S,F 96 | NP_000853.1 | |
XM_011541314.2 | 432 | Missense Mutation | TCT,TTT | S,F 98 | XP_011539616.1 | |
XM_017001119.1 | 432 | Missense Mutation | TCT,TTT | S,F 98 | XP_016856608.1 |