Product Details

SNP ID

rs139243559

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:154945710 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGCATCCACAAAATCCCGGAAG[C/T]GGAGGCGGTCATGACGGAAGATGCC

Phenotype

MIM: 607622

Polymorphism

C/T, 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	1675	Missense Mutation	CAC,CGC	H626R	NP_001304663.1
NM_001317735.1	1675	Missense Mutation	CAC,CGC	H500R	NP_001304664.1
NM_020524.3	1675	Missense Mutation	CAC,CGC	H655R	NP_065385.2

Gene

PMVK

Gene Name

phosphomevalonate kinase

There are no transcripts associated with this gene.

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