Product Details

SNP ID
rs181236443
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:105112121 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGAAAATCCTCCAAAGTCATCCAC[A/G]CCTCACACACCTGTACAGCATGGTT
Phenotype
MIM: 608444 MIM: 602980
Polymorphism
A/G, 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 4818 Silent Mutation ACA,ACG T1455T NP_061152.3
NM_182931.2 4818 Silent Mutation ACA,ACG T1455T NP_891847.1
XM_005250493.1 4818 Silent Mutation ACA,ACG T1455T XP_005250550.1
XM_011516400.1 4818 Silent Mutation ACA,ACG T1455T XP_011514702.1
XM_017012435.1 4818 Silent Mutation ACA,ACG T1309T 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 4818 Intron NP_001265202.1
NM_182691.2 4818 Intron NP_872633.1
NM_182692.2 4818 Intron NP_872634.1
XM_005250549.3 4818 Intron XP_005250606.2
XM_005250550.3 4818 Intron XP_005250607.1
XM_005250551.4 4818 Intron XP_005250608.1
XM_006716098.2 4818 Intron XP_006716161.1
XM_011516536.2 4818 Intron XP_011514838.1
XM_011516538.2 4818 Intron XP_011514840.1
XM_017012560.1 4818 Intron XP_016868049.1
XM_017012561.1 4818 Intron XP_016868050.1
XM_017012562.1 4818 Intron XP_016868051.1
XM_017012563.1 4818 Intron XP_016868052.1
XM_017012564.1 4818 Intron XP_016868053.1
XM_017012565.1 4818 Intron XP_016868054.1
XM_017012566.1 4818 Intron XP_016868055.1

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