Product Details

SNP ID
rs6057563
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:32365160 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GATAATGAAGGGGTATAGTCAGTAC[A/C]CAACTGAATATTTGAATCTGAAATT
Phenotype
MIM: 612990
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ASXL1 PubMed Links

Gene Details

Gene
ASXL1
Gene Name
additional sex combs like 1, transcriptional regulator
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164603.1 Intron NP_001158075.1
NM_015338.5 Intron NP_056153.2
XM_006723727.3 Intron XP_006723790.1
XM_006723728.3 Intron XP_006723791.1
XM_006723730.3 Intron XP_006723793.1
XM_006723732.2 Intron XP_006723795.1
XM_006723733.1 Intron XP_006723796.1
XM_011528648.2 Intron XP_011526950.1
XM_011528652.2 Intron XP_011526954.1
XM_017027704.1 Intron XP_016883193.1
XM_017027705.1 Intron XP_016883194.1
XM_017027706.1 Intron XP_016883195.1

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