Product Details

SNP ID
rs190341782
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:155338251 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGACGTTAGCAGTGGCCCCTTCCC[A/G]TTCTGGCTCCTCCAGGCTGGGTATC
Phenotype
MIM: 607999
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ASH1L PubMed Links

Gene Details

Gene
ASH1L
Gene Name
ASH1 like histone lysine methyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018489.2 3616 Missense Mutation CGG,TGG R2881W NP_060959.2
XM_005245337.4 3616 Intron XP_005245394.1
XM_006711450.3 3616 Missense Mutation CGG,TGG R2881W XP_006711513.1
XM_006711451.3 3616 Missense Mutation CGG,TGG R2881W XP_006711514.1
XM_006711452.3 3616 Missense Mutation CGG,TGG R2821W XP_006711515.1
XM_011509769.2 3616 Intron XP_011508071.1
XM_011509770.2 3616 Missense Mutation CGG,TGG R1161W XP_011508072.1
XM_017001784.1 3616 Missense Mutation CGG,TGG R2881W XP_016857273.1
XM_017001785.1 3616 Missense Mutation CGG,TGG R2881W XP_016857274.1
XM_017001786.1 3616 Intron XP_016857275.1
XM_017001787.1 3616 Intron XP_016857276.1
XM_017001788.1 3616 Missense Mutation CGG,TGG R1161W XP_016857277.1
Gene
MIR555
Gene Name
microRNA 555
There are no transcripts associated with this gene.

Gene
RUSC1
Gene Name
RUN and SH3 domain containing 1
There are no transcripts associated with this gene.

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