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TCAATTCGGCATTGCCCTTCCGGCT[A/G]GGGGACACCCACCAAATGGAGATAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605994 | ||||||||||||||||||||
Literature Links: |
CYP39A1 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 |
CYP39A1 - cytochrome P450 family 39 subfamily A member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278738.1 | 1404 | Nonsense Mutation | CAG,TAG | Q,* 436 | NP_001265667.1 | |
NM_001278739.1 | 1404 | Nonsense Mutation | CAG,TAG | Q,* 284 | NP_001265668.1 | |
NM_016593.4 | 1404 | Nonsense Mutation | CAG,TAG | Q,* 456 | NP_057677.2 | |
XM_005249171.3 | 1404 | Intron | XP_005249228.1 | |||
XM_011514658.1 | 1404 | UTR 3 | XP_011512960.1 | |||
XM_017010921.1 | 1404 | Intron | XP_016866410.1 | |||
XM_017010922.1 | 1404 | Intron | XP_016866411.1 | |||
XM_017010923.1 | 1404 | Intron | XP_016866412.1 | |||
XM_017010924.1 | 1404 | Nonsense Mutation | CAG,TAG | Q,* 420 | XP_016866413.1 | |
XM_017010925.1 | 1404 | UTR 3 | XP_016866414.1 |