Product Details
- SNP ID
-
rs139977966
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.22:40411595 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGGCTCAGGAACAAAGTGCAATTCC[A/G]AGGTGTCCATGGGTGACGGGGGGTG
- 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 |
3111 |
Missense Mutation |
TCG,TTG |
S864L |
NP_001269589.1 |
| NM_001282661.1 |
3111 |
Missense Mutation |
TCG,TTG |
S814L |
NP_001269590.1 |
| NM_001282662.1 |
3111 |
UTR 3 |
|
|
NP_001269591.1 |
| NM_001318139.1 |
3111 |
Missense Mutation |
TCG,TTG |
S899L |
NP_001305068.1 |
| NM_020831.4 |
3111 |
Missense Mutation |
TCG,TTG |
S864L |
NP_065882.1 |
| XM_005261692.1 |
3111 |
Missense Mutation |
TCG,TTG |
S891L |
XP_005261749.1 |
| XM_005261694.1 |
3111 |
Missense Mutation |
TCG,TTG |
S864L |
XP_005261751.1 |
| XM_011530283.1 |
3111 |
Missense Mutation |
TCG,TTG |
S891L |
XP_011528585.1 |
| XM_011530285.1 |
3111 |
Missense Mutation |
TCG,TTG |
S823L |
XP_011528587.1 |
| XM_011530287.1 |
3111 |
Missense Mutation |
TCG,TTG |
S699L |
XP_011528589.1 |
| XM_017028888.1 |
3111 |
Missense Mutation |
TCG,TTG |
S891L |
XP_016884377.1 |
| XM_017028889.1 |
3111 |
Missense Mutation |
TCG,TTG |
S823L |
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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