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GCTCACCTTCTCACTGTCTCTGCAG[C/T]GGCTACGGATGTTGGGATCATTATT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602858 MIM: 608285 | ||||||||||||||||||||
Literature Links: |
DHCR7 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 |
DHCR7 - 7-dehydrocholesterol reductase | ||||||
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There are no transcripts associated with this gene. |
NADSYN1 - NAD synthetase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018161.4 | 273 | Silent Mutation | TGC,TGT | C,C 49 | NP_060631.2 |