Product Details

SNP ID
rs144784976
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:38007850 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGTTCTTAGACATGAGGTGGACAT[A/G]GCGGTATCCTGGTGGGTGGACAGGC
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 2581 Missense Mutation CAT,TAT H753Y NP_001124436.1
NM_006225.3 2581 Missense Mutation CAT,TAT H732Y NP_006216.2
XM_017006622.1 2581 Missense Mutation CAT,TAT H674Y 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 2581 Intron NP_056957.3
XM_005265191.3 2581 Intron XP_005265248.1
XM_005265192.4 2581 Intron XP_005265249.1
XM_006713184.3 2581 Intron XP_006713247.1
XM_011533770.2 2581 Intron XP_011532072.1
XM_011533771.1 2581 Intron XP_011532073.1
XM_011533773.2 2581 Intron XP_011532075.1

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