Search Thermo Fisher Scientific
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GAAGTCCAGATGATTTCATATCCAC[A/G]ATCAGAAGTTACACTATCACTCTTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602997 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CUBN 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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CUBN - cubilin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001081.3 | 6907 | Missense Mutation | CGT,TGT | R,C 3498 | NP_001072.2 | |
XM_011519708.2 | 6907 | Intron | XP_011518010.1 | |||
XM_011519709.2 | 6907 | Missense Mutation | CGT,TGT | R,C 2160 | XP_011518011.1 | |
XM_011519710.2 | 6907 | Missense Mutation | CGT,TGT | R,C 2152 | XP_011518012.1 | |
XM_011519711.2 | 6907 | Missense Mutation | CGT,TGT | R,C 2112 | XP_011518013.1 |