Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGATTCAGTTTTAACCCATTGAAAA[C/T]AGAAGTCTTTGTACAGACTCTGCTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 600469 MIM: 611153 | ||||||||||||||||||||
Literature Links: |
NCBP1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
NCBP1 - nuclear cap binding protein subunit 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002486.4 | 1928 | Missense Mutation | ACA,ATA | T,I 544 | NP_002477.1 | |
XM_011518715.2 | 1928 | Intron | XP_011517017.1 | |||
XM_017014735.1 | 1928 | Missense Mutation | ACA,ATA | T,I 477 | XP_016870224.1 | |
XM_017014736.1 | 1928 | Missense Mutation | ACA,ATA | T,I 354 | XP_016870225.1 | |
XM_017014737.1 | 1928 | Missense Mutation | ACA,ATA | T,I 354 | XP_016870226.1 | |
XM_017014738.1 | 1928 | Missense Mutation | ACA,ATA | T,I 174 | XP_016870227.1 |
XPA - XPA, DNA damage recognition and repair factor | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000380.3 | 1928 | Intron | NP_000371.1 | |||
XM_006717278.1 | 1928 | Intron | XP_006717341.1 | |||
XM_017015114.1 | 1928 | Intron | XP_016870603.1 |