Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GACCAGGGACAGTTCGCTGGACAGC[A/G]CACTCCTGCTGGGGGTGTTCAGCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 600140 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CREBBP PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
CREBBP - CREB binding protein | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001079846.1 | 8022 | Missense Mutation | GCG,GTG | A,V 2381 | NP_001073315.1 | |
NM_004380.2 | 8022 | Missense Mutation | GCG,GTG | A,V 2419 | NP_004371.2 | |
XM_005255124.4 | 8022 | Missense Mutation | GCG,GTG | A,V 2404 | XP_005255181.1 | |
XM_005255125.4 | 8022 | Missense Mutation | GCG,GTG | A,V 2280 | XP_005255182.1 | |
XM_006720848.3 | 8022 | Missense Mutation | GCG,GTG | A,V 2332 | XP_006720911.1 | |
XM_011522381.2 | 8022 | Missense Mutation | GCG,GTG | A,V 2168 | XP_011520683.1 | |
XM_011522382.2 | 8022 | Intron | XP_011520684.1 | |||
XM_017022944.1 | 8022 | Missense Mutation | GCG,GTG | A,V 2417 | XP_016878433.1 |