Product Details

SNP ID
rs113099699
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:2233996 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGGCCCTCTGCAGCCCTGCACAC[A/T]CCTTGCCCGTCACCTTCCGGATTTC
Phenotype
MIM: 607375 MIM: 600796
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
DOT1L PubMed Links

Gene Details

Gene
DOT1L
Gene Name
DOT1 like histone lysine methyltransferase
There are no transcripts associated with this gene.

Gene
MIR1227
Gene Name
microRNA 1227
There are no transcripts associated with this gene.

Gene
MIR6789
Gene Name
microRNA 6789
There are no transcripts associated with this gene.

Gene
PLEKHJ1
Gene Name
pleckstrin homology domain containing J1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300836.1 902 Intron NP_001287765.1
NM_018049.2 902 Intron NP_060519.1
XM_017026924.1 902 Silent Mutation GGA,GGT G158G XP_016882413.1
XM_017026925.1 902 Silent Mutation GGA,GGT G139G XP_016882414.1
XM_017026926.1 902 Missense Mutation GAG,GTG E129V XP_016882415.1
XM_017026927.1 902 Missense Mutation GAG,GTG E110V XP_016882416.1
XM_017026928.1 902 Intron XP_016882417.1
Gene
SF3A2
Gene Name
splicing factor 3a subunit 2
There are no transcripts associated with this gene.

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