Product Details

SNP ID
rs144063453
Assay Type
Functionally tested
NCBI dbSNP Submissions
14
Location
Chr.1:155338230 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGTTTTTTTTTCACCCTCACTGA[C/T]GTTAGCAGTGGCCCCTTCCCGTTCT
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 3637 Missense Mutation ATC,GTC I2888V NP_060959.2
XM_005245337.4 3637 Intron XP_005245394.1
XM_006711450.3 3637 Missense Mutation ATC,GTC I2888V XP_006711513.1
XM_006711451.3 3637 Missense Mutation ATC,GTC I2888V XP_006711514.1
XM_006711452.3 3637 Missense Mutation ATC,GTC I2828V XP_006711515.1
XM_011509769.2 3637 Intron XP_011508071.1
XM_011509770.2 3637 Missense Mutation ATC,GTC I1168V XP_011508072.1
XM_017001784.1 3637 Missense Mutation ATC,GTC I2888V XP_016857273.1
XM_017001785.1 3637 Missense Mutation ATC,GTC I2888V XP_016857274.1
XM_017001786.1 3637 Intron XP_016857275.1
XM_017001787.1 3637 Intron XP_016857276.1
XM_017001788.1 3637 Missense Mutation ATC,GTC I1168V 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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