Product Details

SNP ID
rs7236433
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:11689700 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGCCCCAGTCCGGGCGGCCGCAA[A/G]GGACACGGCCCGGACCCTGCTCCCT
Phenotype
MIM: 139312
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GNAL PubMed Links

Gene Details

Gene
GNAL
Gene Name
G protein subunit alpha L
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142339.2 686 Intron NP_001135811.1
NM_001261443.1 686 Intron NP_001248372.1
NM_001261444.1 686 Intron NP_001248373.1
NM_182978.3 686 Missense Mutation AAG,AGG K46R NP_892023.1
XM_006722324.2 686 Missense Mutation AAG,AGG K46R XP_006722387.1

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