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CAAAATTATTTTCTTTCAGGAGAAA[C/T]ATGTCCATATATACGGGATCCTTTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
13 submissions
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Phenotype: |
MIM: 120920 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CD46 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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CD46 - CD46 molecule | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002389.4 | 468 | Missense Mutation | ACA,ATA | T,I 98 | NP_002380.3 | |
NM_153826.3 | 468 | Missense Mutation | ACA,ATA | T,I 98 | NP_722548.1 | |
NM_172350.2 | 468 | Missense Mutation | ACA,ATA | T,I 98 | NP_758860.1 | |
NM_172351.2 | 468 | Missense Mutation | ACA,ATA | T,I 98 | NP_758861.1 | |
NM_172352.2 | 468 | Missense Mutation | ACA,ATA | T,I 98 | NP_758862.1 | |
NM_172353.2 | 468 | Missense Mutation | ACA,ATA | T,I 98 | NP_758863.1 | |
NM_172359.2 | 468 | Missense Mutation | ACA,ATA | T,I 98 | NP_758869.1 | |
NM_172361.2 | 468 | Missense Mutation | ACA,ATA | T,I 98 | NP_758871.1 | |
XM_011509563.1 | 468 | Missense Mutation | ACA,ATA | T,I 98 | XP_011507865.1 | |
XM_011509564.1 | 468 | Missense Mutation | ACA,ATA | T,I 98 | XP_011507866.1 | |
XM_017001308.1 | 468 | Missense Mutation | ACA,ATA | T,I 98 | XP_016856797.1 | |
XM_017001309.1 | 468 | Missense Mutation | ACA,ATA | T,I 98 | XP_016856798.1 | |
XM_017001310.1 | 468 | Missense Mutation | ACA,ATA | T,I 98 | XP_016856799.1 |