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Search Thermo Fisher Scientific
CCTGATCCTGAAAATCCAGAACCCA[C/T]AACTACGAATGAATGTCCATCCCCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608444 MIM: 602980 | ||||||||||||||||||||
Literature Links: |
KMT2E PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
KMT2E - lysine methyltransferase 2E | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018682.3 | 4451 | Missense Mutation | ACA,ATA | T,I 1333 | NP_061152.3 | |
NM_182931.2 | 4451 | Missense Mutation | ACA,ATA | T,I 1333 | NP_891847.1 | |
XM_005250493.1 | 4451 | Missense Mutation | ACA,ATA | T,I 1333 | XP_005250550.1 | |
XM_011516400.1 | 4451 | Missense Mutation | ACA,ATA | T,I 1333 | XP_011514702.1 | |
XM_017012435.1 | 4451 | Missense Mutation | ACA,ATA | T,I 1187 | XP_016867924.1 |
SRPK2 - SRSF protein kinase 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278273.1 | 4451 | Intron | NP_001265202.1 | |||
NM_182691.2 | 4451 | Intron | NP_872633.1 | |||
NM_182692.2 | 4451 | Intron | NP_872634.1 | |||
XM_005250549.3 | 4451 | Intron | XP_005250606.2 | |||
XM_005250550.3 | 4451 | Intron | XP_005250607.1 | |||
XM_005250551.4 | 4451 | Intron | XP_005250608.1 | |||
XM_006716098.2 | 4451 | Intron | XP_006716161.1 | |||
XM_011516536.2 | 4451 | Intron | XP_011514838.1 | |||
XM_011516538.2 | 4451 | Intron | XP_011514840.1 | |||
XM_017012560.1 | 4451 | Intron | XP_016868049.1 | |||
XM_017012561.1 | 4451 | Intron | XP_016868050.1 | |||
XM_017012562.1 | 4451 | Intron | XP_016868051.1 | |||
XM_017012563.1 | 4451 | Intron | XP_016868052.1 | |||
XM_017012564.1 | 4451 | Intron | XP_016868053.1 | |||
XM_017012565.1 | 4451 | Intron | XP_016868054.1 | |||
XM_017012566.1 | 4451 | Intron | XP_016868055.1 |