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ATTTAGAATTACTTTACTGTTTTAT[C/T]GATACTGTAAGAAATTCTTCAGTAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615050 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ASB5 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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ASB5 - ankyrin repeat and SOCS box containing 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_080874.3 | 1791 | Missense Mutation | CCA,CTA | P,L 329 | NP_543150.1 | |
XM_005262759.1 | 1791 | Missense Mutation | CCA,CTA | P,L 329 | XP_005262816.1 | |
XM_011531616.2 | 1791 | Missense Mutation | CCA,CTA | P,L 284 | XP_011529918.1 | |
XM_011531617.2 | 1791 | Missense Mutation | CCA,CTA | P,L 276 | XP_011529919.1 |