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Search Thermo Fisher Scientific
CAGGGATGGCGGCTCCTTGAAATCT[A/G]CTGAAATTTCTGCCAATCAATCAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606078 MIM: 610440 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MKL1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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MKL1 - megakaryoblastic leukemia (translocation) 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282660.1 | 2808 | Missense Mutation | GCA,GTA | A,V 763 | NP_001269589.1 | |
NM_001282661.1 | 2808 | Missense Mutation | GCA,GTA | A,V 713 | NP_001269590.1 | |
NM_001282662.1 | 2808 | Silent Mutation | AGC,AGT | S,S 766 | NP_001269591.1 | |
NM_001318139.1 | 2808 | Missense Mutation | GCA,GTA | A,V 798 | NP_001305068.1 | |
NM_020831.4 | 2808 | Missense Mutation | GCA,GTA | A,V 763 | NP_065882.1 | |
XM_005261692.1 | 2808 | Missense Mutation | GCA,GTA | A,V 790 | XP_005261749.1 | |
XM_005261694.1 | 2808 | Missense Mutation | GCA,GTA | A,V 763 | XP_005261751.1 | |
XM_011530283.1 | 2808 | Missense Mutation | GCA,GTA | A,V 790 | XP_011528585.1 | |
XM_011530285.1 | 2808 | Missense Mutation | GCA,GTA | A,V 722 | XP_011528587.1 | |
XM_011530287.1 | 2808 | Missense Mutation | GCA,GTA | A,V 598 | XP_011528589.1 | |
XM_017028888.1 | 2808 | Missense Mutation | GCA,GTA | A,V 790 | XP_016884377.1 | |
XM_017028889.1 | 2808 | Missense Mutation | GCA,GTA | A,V 722 | XP_016884378.1 |
SGSM3 - small G protein signaling modulator 3 | ||||||
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There are no transcripts associated with this gene. |