Product Details

SNP ID

hCV30201632

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:53938060 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGCTTGAACGATGACCTGTCGT[C/G]TGGAAGTGCAAAGGCCCAGGAGTGA

Phenotype

MIM: 300560

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PHF8 PubMed Links

Gene Details

Gene

PHF8

Gene Name

PHD finger protein 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184896.1	4678	UTR 3			NP_001171825.1
NM_001184897.1	4678	Intron			NP_001171826.1
NM_001184898.1	4678	Intron			NP_001171827.1
NM_015107.2	4678	UTR 3			NP_055922.1

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