Product Details

SNP ID

rs132630299

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:134377751 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAAGGTGGCAGCGCACCATAAGT[A/G]CATGGTAAGTATACCGGCAGCAACA

Phenotype

MIM: 300414

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PHF6 PubMed Links

Gene Details

Gene

PHF6

Gene Name

PHD finger protein 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001015877.1	336	Missense Mutation	TAC,TGC	Y45C	NP_001015877.1
NM_032335.3	336	Missense Mutation	TAC,TGC	Y45C	NP_115711.2
NM_032458.2	336	Missense Mutation	TAC,TGC	Y45C	NP_115834.1

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