Product Details

SNP ID
rs138501981
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:50177690 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCAGGAGGCCATTTGGGCTTTG[A/G]CATTTTGATCCCTTCCTCCAAGGCA
Phenotype
MIM: 608364
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LIMA1 PubMed Links

Gene Details

Gene
LIMA1
Gene Name
LIM domain and actin binding 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001113546.1 1712 Missense Mutation CCA,TCA P553S NP_001107018.1
NM_001113547.1 1712 Missense Mutation CCA,TCA P393S NP_001107019.1
NM_001243775.1 1712 Missense Mutation CCA,TCA P250S NP_001230704.1
NM_016357.4 1712 Missense Mutation CCA,TCA P552S NP_057441.1
XM_011538455.2 1712 Missense Mutation CCA,TCA P553S XP_011536757.1
XM_017019429.1 1712 Missense Mutation CCA,TCA P251S XP_016874918.1
XM_017019430.1 1712 Missense Mutation CCA,TCA P250S XP_016874919.1

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