Product Details

SNP ID
rs140764929
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:105111883 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACACGGGAAAATATTCACAAAAC[C/T]AGATCCCCAATGGGACTCCACAGTT
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 4580 Missense Mutation CCA,CTA P1376L NP_061152.3
NM_182931.2 4580 Missense Mutation CCA,CTA P1376L NP_891847.1
XM_005250493.1 4580 Missense Mutation CCA,CTA P1376L XP_005250550.1
XM_011516400.1 4580 Missense Mutation CCA,CTA P1376L XP_011514702.1
XM_017012435.1 4580 Missense Mutation CCA,CTA P1230L 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 4580 Intron NP_001265202.1
NM_182691.2 4580 Intron NP_872633.1
NM_182692.2 4580 Intron NP_872634.1
XM_005250549.3 4580 Intron XP_005250606.2
XM_005250550.3 4580 Intron XP_005250607.1
XM_005250551.4 4580 Intron XP_005250608.1
XM_006716098.2 4580 Intron XP_006716161.1
XM_011516536.2 4580 Intron XP_011514838.1
XM_011516538.2 4580 Intron XP_011514840.1
XM_017012560.1 4580 Intron XP_016868049.1
XM_017012561.1 4580 Intron XP_016868050.1
XM_017012562.1 4580 Intron XP_016868051.1
XM_017012563.1 4580 Intron XP_016868052.1
XM_017012564.1 4580 Intron XP_016868053.1
XM_017012565.1 4580 Intron XP_016868054.1
XM_017012566.1 4580 Intron XP_016868055.1

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