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ATTTGACATAGTAGCTTCATCAATA[C/T]AGGAGAGCCATCTCCGACACAGGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 311030 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MCF2 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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MCF2 - MCF.2 cell line derived transforming sequence | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001099855.1 | 3488 | Silent Mutation | CTA,CTG | L,L 984 | NP_001093325.1 | |
NM_001171876.1 | 3488 | Silent Mutation | CTA,CTG | L,L 1000 | NP_001165347.1 | |
NM_001171877.1 | 3488 | Missense Mutation | TAT,TGT | Y,C 811 | NP_001165348.1 | |
NM_001171878.1 | 3488 | Missense Mutation | TAT,TGT | Y,C 850 | NP_001165349.1 | |
NM_001171879.1 | 3488 | Silent Mutation | CTA,CTG | L,L 940 | NP_001165350.1 | |
NM_005369.4 | 3488 | Silent Mutation | CTA,CTG | L,L 924 | NP_005360.3 | |
XM_005262413.4 | 3488 | Silent Mutation | CTA,CTG | L,L 1043 | XP_005262470.1 | |
XM_011531339.2 | 3488 | Silent Mutation | CTA,CTG | L,L 1000 | XP_011529641.1 | |
XM_017029529.1 | 3488 | UTR 3 | XP_016885018.1 | |||
XM_017029530.1 | 3488 | Missense Mutation | TAT,TGT | Y,C 969 | XP_016885019.1 | |
XM_017029531.1 | 3488 | Silent Mutation | CTA,CTG | L,L 1000 | XP_016885020.1 | |
XM_017029532.1 | 3488 | UTR 3 | XP_016885021.1 |