Product Details

SNP ID
rs114217111
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:155336992 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACAAAAATAATTGCAAGAACTAC[C/T]GTGCCCTTCTGACCCCATGGGGGCC
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 4538 UTR 3 NP_060959.2
XM_005245337.4 4538 Intron XP_005245394.1
XM_006711450.3 4538 UTR 3 XP_006711513.1
XM_006711451.3 4538 UTR 3 XP_006711514.1
XM_006711452.3 4538 UTR 3 XP_006711515.1
XM_011509769.2 4538 Intron XP_011508071.1
XM_011509770.2 4538 UTR 3 XP_011508072.1
XM_017001784.1 4538 UTR 3 XP_016857273.1
XM_017001785.1 4538 UTR 3 XP_016857274.1
XM_017001786.1 4538 Intron XP_016857275.1
XM_017001787.1 4538 Intron XP_016857276.1
XM_017001788.1 4538 UTR 3 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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