Product Details

SNP ID
rs192178250
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:197805199 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCCCGGATGCCGCCGGGGACTGC[A/G]TGACGGCGGCCTCTGGGGGCCGGAT
Phenotype
MIM: 600597
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PLCL1 PubMed Links

Gene Details

Gene
PLCL1
Gene Name
phospholipase C like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006226.3 498 Missense Mutation ATG,GTG M34V NP_006217.3
XM_005246643.3 498 Intron XP_005246700.1
XM_005246644.3 498 Intron XP_005246701.1
XM_011511351.2 498 UTR 5 XP_011509653.1
XM_017004339.1 498 Intron XP_016859828.1
XM_017004340.1 498 Intron XP_016859829.1

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