Product Details

SNP ID

rs200835105

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40394222 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCGCCAGGCCTACACGTGGCAAG[C/T]GGACCCGGACCCGGCCCCGGCGACC

Phenotype

MIM: 611712 MIM: 605725

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HIPK4 PubMed Links

Gene Details

Gene

HIPK4

Gene Name

homeodomain interacting protein kinase 4

There are no transcripts associated with this gene.

Gene

PRX

Gene Name

periaxin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020956.2	5048	UTR 3			NP_066007.1
NM_181882.2	5048	Missense Mutation	CAC,CGC	H1377R	NP_870998.2
XM_011527171.2	5048	Missense Mutation	CAC,CGC	H1377R	XP_011525473.1
XM_017027046.1	5048	Missense Mutation	CAC,CGC	H1343R	XP_016882535.1
XM_017027047.1	5048	Missense Mutation	CAC,CGC	H1343R	XP_016882536.1

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