Product Details

SNP ID
rs113306711
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:155346423 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGTCACACTGCTCACAAAGGTAG[C/T]GCTCCACATCTGAGTTCACTCCCAT
Phenotype
MIM: 607999
Polymorphism
C/T, 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 2825 Missense Mutation CAC,CGC H2617R NP_060959.2
XM_005245337.4 2825 Intron XP_005245394.1
XM_006711450.3 2825 Missense Mutation CAC,CGC H2617R XP_006711513.1
XM_006711451.3 2825 Missense Mutation CAC,CGC H2617R XP_006711514.1
XM_006711452.3 2825 Missense Mutation CAC,CGC H2557R XP_006711515.1
XM_011509769.2 2825 Intron XP_011508071.1
XM_011509770.2 2825 Missense Mutation CAC,CGC H897R XP_011508072.1
XM_017001784.1 2825 Missense Mutation CAC,CGC H2617R XP_016857273.1
XM_017001785.1 2825 Missense Mutation CAC,CGC H2617R XP_016857274.1
XM_017001786.1 2825 Missense Mutation CAC,CGC H2617R XP_016857275.1
XM_017001787.1 2825 Intron XP_016857276.1
XM_017001788.1 2825 Missense Mutation CAC,CGC H897R XP_016857277.1
Gene
MIR555
Gene Name
microRNA 555
There are no transcripts associated with this gene.

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