Product Details

SNP ID
rs77885224
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:105111976 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCAACAAAAACAGCTATCAAATA[A/G]CAACCAAGCACTTTCAAAGAATCAT
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 4673 Missense Mutation AAC,AGC N1407S NP_061152.3
NM_182931.2 4673 Missense Mutation AAC,AGC N1407S NP_891847.1
XM_005250493.1 4673 Missense Mutation AAC,AGC N1407S XP_005250550.1
XM_011516400.1 4673 Missense Mutation AAC,AGC N1407S XP_011514702.1
XM_017012435.1 4673 Missense Mutation AAC,AGC N1261S 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 4673 Intron NP_001265202.1
NM_182691.2 4673 Intron NP_872633.1
NM_182692.2 4673 Intron NP_872634.1
XM_005250549.3 4673 Intron XP_005250606.2
XM_005250550.3 4673 Intron XP_005250607.1
XM_005250551.4 4673 Intron XP_005250608.1
XM_006716098.2 4673 Intron XP_006716161.1
XM_011516536.2 4673 Intron XP_011514838.1
XM_011516538.2 4673 Intron XP_011514840.1
XM_017012560.1 4673 Intron XP_016868049.1
XM_017012561.1 4673 Intron XP_016868050.1
XM_017012562.1 4673 Intron XP_016868051.1
XM_017012563.1 4673 Intron XP_016868052.1
XM_017012564.1 4673 Intron XP_016868053.1
XM_017012565.1 4673 Intron XP_016868054.1
XM_017012566.1 4673 Intron XP_016868055.1

View Full Product Details