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TTAAATTCTGTTCTCCGAGAATTTA[C/T]ACTCCAGCAAATAAATACAGTGTGT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 165340 | |||||||||||||||||||||||
Literature Links: |
SKIL PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
SKIL - SKI-like proto-oncogene | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145097.2 | 1248 | Missense Mutation | ACA,ATA | T,I 179 | NP_001138569.1 | |
NM_001145098.2 | 1248 | Missense Mutation | ACA,ATA | T,I 159 | NP_001138570.1 | |
NM_001248008.1 | 1248 | Missense Mutation | ACA,ATA | T,I 179 | NP_001234937.1 | |
NM_005414.4 | 1248 | Missense Mutation | ACA,ATA | T,I 179 | NP_005405.2 | |
XM_005247721.1 | 1248 | Missense Mutation | ACA,ATA | T,I 179 | XP_005247778.1 | |
XM_006713735.1 | 1248 | Missense Mutation | ACA,ATA | T,I 179 | XP_006713798.1 |