Product Details

SNP ID
rs201298872
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:40411663 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTCAGCATCTGGCTATGGAGGTC[A/G]TCAATGAGGGAAAGGGGCTCTGGCC
Phenotype
MIM: 606078 MIM: 610440
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
MKL1 PubMed Links

Gene Details

Gene
MKL1
Gene Name
megakaryoblastic leukemia (translocation) 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282660.1 3043 Silent Mutation GAC,GAT D841D NP_001269589.1
NM_001282661.1 3043 Silent Mutation GAC,GAT D791D NP_001269590.1
NM_001282662.1 3043 UTR 3 NP_001269591.1
NM_001318139.1 3043 Silent Mutation GAC,GAT D876D NP_001305068.1
NM_020831.4 3043 Silent Mutation GAC,GAT D841D NP_065882.1
XM_005261692.1 3043 Silent Mutation GAC,GAT D868D XP_005261749.1
XM_005261694.1 3043 Silent Mutation GAC,GAT D841D XP_005261751.1
XM_011530283.1 3043 Silent Mutation GAC,GAT D868D XP_011528585.1
XM_011530285.1 3043 Silent Mutation GAC,GAT D800D XP_011528587.1
XM_011530287.1 3043 Silent Mutation GAC,GAT D676D XP_011528589.1
XM_017028888.1 3043 Silent Mutation GAC,GAT D868D XP_016884377.1
XM_017028889.1 3043 Silent Mutation GAC,GAT D800D XP_016884378.1
Gene
SGSM3
Gene Name
small G protein signaling modulator 3
There are no transcripts associated with this gene.

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