Product Details

SNP ID
rs190294224
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:25742144 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTTTCAAGCGGCAGTAACATTTC[A/G]AAGGCGTGCCCTCTATGCTGTTCTC
Phenotype
MIM: 612991
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ASXL2 PubMed Links

Gene Details

Gene
ASXL2
Gene Name
additional sex combs like 2, transcriptional regulator
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018263.4 3821 Missense Mutation TCG,TTG S1398L NP_060733.4
XM_006712039.3 3821 Missense Mutation TCG,TTG S1276L XP_006712102.1
XM_006712040.2 3821 Missense Mutation TCG,TTG S1138L XP_006712103.1
XM_011532950.2 3821 Missense Mutation TCG,TTG S1397L XP_011531252.1
XM_011532951.2 3821 Missense Mutation TCG,TTG S1340L XP_011531253.1
XM_017004429.1 3821 Missense Mutation TCG,TTG S1370L XP_016859918.1
XM_017004430.1 3821 Missense Mutation TCG,TTG S1138L XP_016859919.1

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