Product Details

SNP ID

rs200430830

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40380585 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGCCAGGATGGGCTCAGGGCCC[A/G]AGTCGGGCACATGGTGGCCAGTGAT

Phenotype

MIM: 611712 MIM: 615698

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HIPK4 PubMed Links

Gene Details

Gene

HIPK4

Gene Name

homeodomain interacting protein kinase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144685.4	1700	Missense Mutation	TCG,TTG	S469L	NP_653286.2
XM_006723036.2	1700	Missense Mutation	TCG,TTG	S469L	XP_006723099.1

Gene

PLD3

Gene Name

phospholipase D family member 3

There are no transcripts associated with this gene.

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