Product Details

SNP ID
rs149990670
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:105111918 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGGACTCCACAGTTAGTGCATCC[A/G]AAGCTGAAAATGGTGTTCACCTAAA
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 4615 Missense Mutation AAA,GAA K1388E NP_061152.3
NM_182931.2 4615 Missense Mutation AAA,GAA K1388E NP_891847.1
XM_005250493.1 4615 Missense Mutation AAA,GAA K1388E XP_005250550.1
XM_011516400.1 4615 Missense Mutation AAA,GAA K1388E XP_011514702.1
XM_017012435.1 4615 Missense Mutation AAA,GAA K1242E 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 4615 Intron NP_001265202.1
NM_182691.2 4615 Intron NP_872633.1
NM_182692.2 4615 Intron NP_872634.1
XM_005250549.3 4615 Intron XP_005250606.2
XM_005250550.3 4615 Intron XP_005250607.1
XM_005250551.4 4615 Intron XP_005250608.1
XM_006716098.2 4615 Intron XP_006716161.1
XM_011516536.2 4615 Intron XP_011514838.1
XM_011516538.2 4615 Intron XP_011514840.1
XM_017012560.1 4615 Intron XP_016868049.1
XM_017012561.1 4615 Intron XP_016868050.1
XM_017012562.1 4615 Intron XP_016868051.1
XM_017012563.1 4615 Intron XP_016868052.1
XM_017012564.1 4615 Intron XP_016868053.1
XM_017012565.1 4615 Intron XP_016868054.1
XM_017012566.1 4615 Intron XP_016868055.1

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