Product Details

SNP ID

rs139342994

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:38008261 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGTTGGTGATGACAGCAGTCTGG[C/T]GGCTGGCCACGTCCCGGCTCACGCC

Phenotype

MIM: 602142

Polymorphism

C/T, 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	2396	Missense Mutation	CAC,CGC	H691R	NP_001124436.1
NM_006225.3	2396	Missense Mutation	CAC,CGC	H670R	NP_006216.2
XM_017006622.1	2396	Missense Mutation	CAC,CGC	H612R	XP_016862111.1

Gene

VILL

Gene Name

villin like

There are no transcripts associated with this gene.

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