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CTCTCCCCCACAGAGAAGTTTCCAC[C/T]GTTTTCCACCACATCTGTATGCAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607040 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCC11 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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ABCC11 - ATP binding cassette subfamily C member 11 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032583.3 | 4173 | Missense Mutation | AGT,GGT | S,G 1275 | NP_115972.2 | |
NM_033151.3 | 4173 | Missense Mutation | AGT,GGT | S,G 1275 | NP_149163.2 | |
NM_145186.2 | 4173 | Intron | NP_660187.1 | |||
XM_011523397.1 | 4173 | Missense Mutation | AGT,GGT | S,G 956 | XP_011521699.1 | |
XM_011523398.2 | 4173 | Missense Mutation | AGT,GGT | S,G 652 | XP_011521700.1 | |
XM_017023795.1 | 4173 | Missense Mutation | AGT,GGT | S,G 1275 | XP_016879284.1 | |
XM_017023796.1 | 4173 | Missense Mutation | AGT,GGT | S,G 1275 | XP_016879285.1 | |
XM_017023797.1 | 4173 | Missense Mutation | AGT,GGT | S,G 1275 | XP_016879286.1 | |
XM_017023798.1 | 4173 | Missense Mutation | AGT,GGT | S,G 1275 | XP_016879287.1 | |
XM_017023799.1 | 4173 | Missense Mutation | AGT,GGT | S,G 1275 | XP_016879288.1 | |
XM_017023800.1 | 4173 | Missense Mutation | AGT,GGT | S,G 1275 | XP_016879289.1 | |
XM_017023801.1 | 4173 | Missense Mutation | AGT,GGT | S,G 1239 | XP_016879290.1 | |
XM_017023802.1 | 4173 | Missense Mutation | AGT,GGT | S,G 956 | XP_016879291.1 | |
XM_017023803.1 | 4173 | Intron | XP_016879292.1 |