Product Details

SNP ID
rs2208131
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.20:32360478 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
GAGAGCTCTCGTTCTCCTCCTCGAC[A/G]ATGAGTTTTGTGTGTTCATTGACAT
Phenotype
MIM: 612990
Polymorphism
A/G, Transition 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 1226 Intron NP_001158075.1
NM_015338.5 1226 Intron NP_056153.2
XM_006723727.3 1226 Intron XP_006723790.1
XM_006723728.3 1226 Intron XP_006723791.1
XM_006723730.3 1226 Intron XP_006723793.1
XM_006723732.2 1226 Intron XP_006723795.1
XM_006723733.1 1226 Intron XP_006723796.1
XM_011528648.2 1226 Intron XP_011526950.1
XM_011528652.2 1226 UTR 5 XP_011526954.1
XM_017027704.1 1226 UTR 5 XP_016883193.1
XM_017027705.1 1226 Intron XP_016883194.1
XM_017027706.1 1226 Intron XP_016883195.1

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