Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATGCTCTCACAATGCTACAAGCCCT[C/T]CACAAACTTCTCTAGCGTGTCCCCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600140 | ||||||||||||||||||||
Literature Links: |
CREBBP 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 |
CREBBP - CREB binding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001079846.1 | 8084 | Missense Mutation | AAG,GAG | K,E 2402 | NP_001073315.1 | |
NM_004380.2 | 8084 | Missense Mutation | AAG,GAG | K,E 2440 | NP_004371.2 | |
XM_005255124.4 | 8084 | Missense Mutation | AAG,GAG | K,E 2425 | XP_005255181.1 | |
XM_005255125.4 | 8084 | Missense Mutation | AAG,GAG | K,E 2301 | XP_005255182.1 | |
XM_006720848.3 | 8084 | Missense Mutation | AAG,GAG | K,E 2353 | XP_006720911.1 | |
XM_011522381.2 | 8084 | Missense Mutation | AAG,GAG | K,E 2189 | XP_011520683.1 | |
XM_011522382.2 | 8084 | Intron | XP_011520684.1 | |||
XM_017022944.1 | 8084 | Missense Mutation | AAG,GAG | K,E 2438 | XP_016878433.1 |