Product Details

SNP ID
rs200809872
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:105112340 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACAGACACCCTCAGGACAATCTTC[A/G]GCAACATACAGTCAGTTTAACCAAC
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 5037 Silent Mutation TCA,TCG S1528S NP_061152.3
NM_182931.2 5037 Silent Mutation TCA,TCG S1528S NP_891847.1
XM_005250493.1 5037 Silent Mutation TCA,TCG S1528S XP_005250550.1
XM_011516400.1 5037 Silent Mutation TCA,TCG S1528S XP_011514702.1
XM_017012435.1 5037 Silent Mutation TCA,TCG S1382S 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 5037 Intron NP_001265202.1
NM_182691.2 5037 Intron NP_872633.1
NM_182692.2 5037 Intron NP_872634.1
XM_005250549.3 5037 Intron XP_005250606.2
XM_005250550.3 5037 Intron XP_005250607.1
XM_005250551.4 5037 Intron XP_005250608.1
XM_006716098.2 5037 Intron XP_006716161.1
XM_011516536.2 5037 Intron XP_011514838.1
XM_011516538.2 5037 Intron XP_011514840.1
XM_017012560.1 5037 Intron XP_016868049.1
XM_017012561.1 5037 Intron XP_016868050.1
XM_017012562.1 5037 Intron XP_016868051.1
XM_017012563.1 5037 Intron XP_016868052.1
XM_017012564.1 5037 Intron XP_016868053.1
XM_017012565.1 5037 Intron XP_016868054.1
XM_017012566.1 5037 Intron XP_016868055.1

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