Product Details

SNP ID

rs132630300

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:134377619 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTCTAAAGGCAATTTAAAAATCA[C/T]GTCAAGCTCAGTTGAACAGAAAAAA

Phenotype

MIM: 300414

Polymorphism

C/T, 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	204	Missense Mutation	ACG,ATG	T1M	NP_001015877.1
NM_032335.3	204	Missense Mutation	ACG,ATG	T1M	NP_115711.2
NM_032458.2	204	Missense Mutation	ACG,ATG	T1M	NP_115834.1

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