Product Details

SNP ID

rs132630301

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:134377639 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATCATGTCAAGCTCAGTTGAACAG[A/T]AAAAAGGGCCTACAAGACAGCGCAA

Phenotype

MIM: 300414

Polymorphism

A/T, Transversion 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	224	Nonsense Mutation	AAA,TAA	K8*	NP_001015877.1
NM_032335.3	224	Nonsense Mutation	AAA,TAA	K8*	NP_115711.2
NM_032458.2	224	Nonsense Mutation	AAA,TAA	K8*	NP_115834.1

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