Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCAAGCGGCAGTAACATTTCGAAGG[C/T]GTGCCCTCTATGCTGTTCTCTTCGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 612991 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ASXL2 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
|
ASXL2 - additional sex combs like 2, transcriptional regulator | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018263.4 | 3816 | Silent Mutation | ACA,ACG | T,T 1396 | NP_060733.4 | |
XM_006712039.3 | 3816 | Silent Mutation | ACA,ACG | T,T 1274 | XP_006712102.1 | |
XM_006712040.2 | 3816 | Silent Mutation | ACA,ACG | T,T 1136 | XP_006712103.1 | |
XM_011532950.2 | 3816 | Silent Mutation | ACA,ACG | T,T 1395 | XP_011531252.1 | |
XM_011532951.2 | 3816 | Silent Mutation | ACA,ACG | T,T 1338 | XP_011531253.1 | |
XM_017004429.1 | 3816 | Silent Mutation | ACA,ACG | T,T 1368 | XP_016859918.1 | |
XM_017004430.1 | 3816 | Silent Mutation | ACA,ACG | T,T 1136 | XP_016859919.1 |