Product Details

SNP ID
rs202132647
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:38008142 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACAACTACCTCAAACGCAAACTCC[A/G]TGTCCCACCATGGGTTGAAACCTAG
Phenotype
MIM: 602142
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PLCD1 PubMed Links

Gene Details

Gene
PLCD1
Gene Name
phospholipase C delta 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130964.1 2444 Missense Mutation ACG,ATG T707M NP_001124436.1
NM_006225.3 2444 Missense Mutation ACG,ATG T686M NP_006216.2
XM_017006622.1 2444 Missense Mutation ACG,ATG T628M XP_016862111.1
Gene
VILL
Gene Name
villin like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015873.3 2444 Intron NP_056957.3
XM_005265191.3 2444 Intron XP_005265248.1
XM_005265192.4 2444 Intron XP_005265249.1
XM_006713184.3 2444 Intron XP_006713247.1
XM_011533770.2 2444 Intron XP_011532072.1
XM_011533771.1 2444 Intron XP_011532073.1
XM_011533773.2 2444 Intron XP_011532075.1

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