Product Details

SNP ID

rs200825555

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:169705641 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTATTCTCACATTGGGAGCAGTG[C/T]ATAAGTGATTCAGCCTTTCCTTTCT

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	3530	UTR 3			NP_001025034.1
NM_001317342.1	3530	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	3530	Missense Mutation	ATA,ATG	I399M	NP_060758.2
NM_133325.2	3530	Missense Mutation	ATA,ATG	I397M	NP_579866.2
XM_017010998.1	3530	Missense Mutation	ATA,ATG	I347M	XP_016866487.1

Gene

WDR27

Gene Name

WD repeat domain 27

There are no transcripts associated with this gene.

View Full Product Details