Product Details

SNP ID

rs142630105

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:53940446 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGACTGAGATTGGAGTCTTGAGGG[C/T]GAGGCTGTTCTACCTCCTTCAGCAA

Phenotype

MIM: 300560

Polymorphism

C/T, Transition 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	3523	Missense Mutation	CAC,CGC	H943R	NP_001171825.1
NM_001184897.1	3523	Missense Mutation	CAC,CGC	H806R	NP_001171826.1
NM_001184898.1	3523	Intron			NP_001171827.1
NM_015107.2	3523	Missense Mutation	CAC,CGC	H907R	NP_055922.1
XM_005261996.1	3523	Missense Mutation	CAC,CGC	H943R	XP_005262053.1
XM_005261997.3	3523	Missense Mutation	CAC,CGC	H907R	XP_005262054.1
XM_005261999.1	3523	Missense Mutation	CAC,CGC	H907R	XP_005262056.1
XM_005262000.1	3523	Missense Mutation	CAC,CGC	H842R	XP_005262057.1
XM_011530778.1	3523	Missense Mutation	CAC,CGC	H943R	XP_011529080.1
XM_017029361.1	3523	Missense Mutation	CAC,CGC	H907R	XP_016884850.1
XM_017029362.1	3523	Missense Mutation	CAC,CGC	H907R	XP_016884851.1

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