Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCTCCATAAAGAGTTCCACCACAT[C/T]CTGCAAGGAAAACAGGACAGGAAGT
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 |
---|---|---|
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 |
CUBN - cubilin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001081.3 | 6944 | Missense Mutation | GAA,GGA | E,G 3510 | NP_001072.2 | |
XM_011519708.2 | 6944 | Intron | XP_011518010.1 | |||
XM_011519709.2 | 6944 | Missense Mutation | GAA,GGA | E,G 2172 | XP_011518011.1 | |
XM_011519710.2 | 6944 | Missense Mutation | GAA,GGA | E,G 2164 | XP_011518012.1 | |
XM_011519711.2 | 6944 | Missense Mutation | GAA,GGA | E,G 2124 | XP_011518013.1 |