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GGCCATCATCTTCAGCCACATGCAC[A/G]CAGAGCTGCACGCACTCTTCCCCGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608453 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CBLC 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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CBLC - Cbl proto-oncogene C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130852.1 | 474 | Missense Mutation | ACA,GCA | T,A 133 | NP_001124324.1 | |
NM_012116.3 | 474 | Missense Mutation | ACA,GCA | T,A 133 | NP_036248.3 | |
XM_005258696.3 | 474 | Missense Mutation | ACA,GCA | T,A 133 | XP_005258753.1 | |
XM_011526688.2 | 474 | Missense Mutation | ACA,GCA | T,A 133 | XP_011524990.1 | |
XM_011526689.2 | 474 | Missense Mutation | ACA,GCA | T,A 133 | XP_011524991.1 | |
XM_011526690.2 | 474 | Missense Mutation | ACA,GCA | T,A 133 | XP_011524992.1 |