Product Details

SNP ID
rs115252503
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:105112253 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCAGCGAGAGCCTCAAAGAAACTT[C/T]TATCCAGCAGCACAGAACCTTCCAG
Phenotype
MIM: 608444 MIM: 602980
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KMT2E PubMed Links

Gene Details

Gene
KMT2E
Gene Name
lysine methyltransferase 2E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018682.3 4950 Silent Mutation TTC,TTT F1499F NP_061152.3
NM_182931.2 4950 Silent Mutation TTC,TTT F1499F NP_891847.1
XM_005250493.1 4950 Silent Mutation TTC,TTT F1499F XP_005250550.1
XM_011516400.1 4950 Silent Mutation TTC,TTT F1499F XP_011514702.1
XM_017012435.1 4950 Silent Mutation TTC,TTT F1353F XP_016867924.1
Gene
SRPK2
Gene Name
SRSF protein kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278273.1 4950 Intron NP_001265202.1
NM_182691.2 4950 Intron NP_872633.1
NM_182692.2 4950 Intron NP_872634.1
XM_005250549.3 4950 Intron XP_005250606.2
XM_005250550.3 4950 Intron XP_005250607.1
XM_005250551.4 4950 Intron XP_005250608.1
XM_006716098.2 4950 Intron XP_006716161.1
XM_011516536.2 4950 Intron XP_011514838.1
XM_011516538.2 4950 Intron XP_011514840.1
XM_017012560.1 4950 Intron XP_016868049.1
XM_017012561.1 4950 Intron XP_016868050.1
XM_017012562.1 4950 Intron XP_016868051.1
XM_017012563.1 4950 Intron XP_016868052.1
XM_017012564.1 4950 Intron XP_016868053.1
XM_017012565.1 4950 Intron XP_016868054.1
XM_017012566.1 4950 Intron XP_016868055.1

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