Product Details

SNP ID
rs199684478
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:38105603 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGAAGCGGGTGCCGGGCCTGGCC[C/T]AGGAGCGGTCGCAAATGCAACAGGG
Phenotype
MIM: 604782
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ASH2L PubMed Links

Gene Details

Gene
ASH2L
Gene Name
ASH2 like histone lysine methyltransferase complex subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001105214.2 639 Intron NP_001098684.1
NM_001261832.1 639 Intron NP_001248761.1
NM_001282272.1 639 UTR 5 NP_001269201.1
NM_004674.4 639 Missense Mutation CCA,CTA P18L NP_004665.2
XM_005273682.1 639 Missense Mutation CCA,CTA P18L XP_005273739.1
XM_005273683.1 639 Intron XP_005273740.1
XM_006716412.1 639 Missense Mutation CCA,CTA P18L XP_006716475.1
XM_006716413.2 639 Intron XP_006716476.1

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