Product Details

SNP ID

rs41264249

Assay Type

Functionally tested

NCBI dbSNP Submissions

19

Location

Chr.1:154944090 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAACAGGAGAGGCATTTTTCTTGC[A/G]TTGCTTTTATTTAATCACTTCCCCA

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	2841	UTR 3			NP_001304663.1
NM_001317735.1	2841	UTR 3			NP_001304664.1
NM_020524.3	2841	UTR 3			NP_065385.2

Gene

PMVK

Gene Name

phosphomevalonate kinase

There are no transcripts associated with this gene.

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