Product Details

SNP ID
rs78975298
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:2231869 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGGCTCCTGCCCACGCAGGCCAC[C/T]GTATGTTCAGGACACGCACTGGGTC
Phenotype
MIM: 607375 MIM: 600796
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DOT1L PubMed Links

Gene Details

Gene
DOT1L
Gene Name
DOT1 like histone lysine methyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032482.2 8814 UTR 3 NP_115871.1
XM_005259659.3 8814 UTR 3 XP_005259716.1
XM_005259660.3 8814 UTR 3 XP_005259717.1
XM_011528359.2 8814 UTR 3 XP_011526661.1
XM_011528360.1 8814 UTR 3 XP_011526662.1
XM_011528361.2 8814 UTR 3 XP_011526663.1
XM_017027366.1 8814 UTR 3 XP_016882855.1
Gene
LOC105372239
Gene Name
uncharacterized LOC105372239
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 8814 Intron NP_001287765.1
NM_018049.2 8814 Intron NP_060519.1
XM_017026924.1 8814 Intron XP_016882413.1
XM_017026925.1 8814 Intron XP_016882414.1
XM_017026926.1 8814 Intron XP_016882415.1
XM_017026927.1 8814 Intron XP_016882416.1
XM_017026928.1 8814 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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