Product Details

SNP ID: rs138574457
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:169705718 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATTCCACATATAGCATTTGGAATGA[C/T]CTTTGGCTGGAAGGGTAGAAGAGGG
Phenotype: MIM: 616987 MIM: 613069
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: C6orf120 PubMed Links

Gene Details

Gene: C6orf120
Gene Name: chromosome 6 open reading frame 120

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001029863.2	3607	UTR 3			NP_001025034.1
NM_001317342.1	3607	UTR 3			NP_001304271.1

Gene: PHF10
Gene Name: PHD finger protein 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018288.3	3607	Missense Mutation	ATC,GTC	I374V	NP_060758.2
NM_133325.2	3607	Missense Mutation	ATC,GTC	I372V	NP_579866.2
XM_017010998.1	3607	Missense Mutation	ATC,GTC	I322V	XP_016866487.1

Gene: WDR27
Gene Name: WD repeat domain 27

There are no transcripts associated with this gene.

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