Product Details

SNP ID

rs200704535

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:154945705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTCCAGGGCATCCACAAAATCCC[A/G]GAAGCGGAGGCGGTCATGACGGAAG

Phenotype

MIM: 607622

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PBXIP1 PubMed Links

Gene Details

Gene

PBXIP1

Gene Name

PBX homeobox interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317734.1	1680	Missense Mutation	CGG,TGG	R628W	NP_001304663.1
NM_001317735.1	1680	Missense Mutation	CGG,TGG	R502W	NP_001304664.1
NM_020524.3	1680	Missense Mutation	CGG,TGG	R657W	NP_065385.2

Gene

PMVK

Gene Name

phosphomevalonate kinase

There are no transcripts associated with this gene.

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