Product Details

SNP ID
rs143536518
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:105111992 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCAAATAACAACCAAGCACTTTC[A/G]AAGAATCATCCTCCTCAGACACACG
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 4689 Silent Mutation TCA,TCG S1412S NP_061152.3
NM_182931.2 4689 Silent Mutation TCA,TCG S1412S NP_891847.1
XM_005250493.1 4689 Silent Mutation TCA,TCG S1412S XP_005250550.1
XM_011516400.1 4689 Silent Mutation TCA,TCG S1412S XP_011514702.1
XM_017012435.1 4689 Silent Mutation TCA,TCG S1266S 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 4689 Intron NP_001265202.1
NM_182691.2 4689 Intron NP_872633.1
NM_182692.2 4689 Intron NP_872634.1
XM_005250549.3 4689 Intron XP_005250606.2
XM_005250550.3 4689 Intron XP_005250607.1
XM_005250551.4 4689 Intron XP_005250608.1
XM_006716098.2 4689 Intron XP_006716161.1
XM_011516536.2 4689 Intron XP_011514838.1
XM_011516538.2 4689 Intron XP_011514840.1
XM_017012560.1 4689 Intron XP_016868049.1
XM_017012561.1 4689 Intron XP_016868050.1
XM_017012562.1 4689 Intron XP_016868051.1
XM_017012563.1 4689 Intron XP_016868052.1
XM_017012564.1 4689 Intron XP_016868053.1
XM_017012565.1 4689 Intron XP_016868054.1
XM_017012566.1 4689 Intron XP_016868055.1

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