Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTCGCTCTGTGGCTGTGTTCCCTT[G/T]GCACTCCTTAGTCCCCTTCCTGGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612082 | ||||||||||||||||||||
Literature Links: |
CIC 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 |
CIC - capicua transcriptional repressor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304815.1 | 2947 | Missense Mutation | TGG,TTG | W,L 946 | NP_001291744.1 | |
NM_015125.4 | 2947 | Missense Mutation | TGG,TTG | W,L 37 | NP_055940.3 | |
XM_005258673.2 | 2947 | Missense Mutation | TGG,TTG | W,L 37 | XP_005258730.1 | |
XM_005258674.2 | 2947 | Missense Mutation | TGG,TTG | W,L 37 | XP_005258731.1 | |
XM_005258675.2 | 2947 | Missense Mutation | TGG,TTG | W,L 37 | XP_005258732.1 | |
XM_011526660.2 | 2947 | Missense Mutation | TGG,TTG | W,L 946 | XP_011524962.1 | |
XM_011526661.2 | 2947 | Missense Mutation | TGG,TTG | W,L 946 | XP_011524963.1 | |
XM_011526662.2 | 2947 | Missense Mutation | TGG,TTG | W,L 946 | XP_011524964.1 | |
XM_011526663.2 | 2947 | Missense Mutation | TGG,TTG | W,L 946 | XP_011524965.1 | |
XM_011526664.2 | 2947 | Missense Mutation | TGG,TTG | W,L 946 | XP_011524966.1 | |
XM_011526665.2 | 2947 | Missense Mutation | TGG,TTG | W,L 946 | XP_011524967.1 | |
XM_011526666.2 | 2947 | Missense Mutation | TGG,TTG | W,L 946 | XP_011524968.1 | |
XM_011526667.2 | 2947 | Missense Mutation | TGG,TTG | W,L 946 | XP_011524969.1 |