Product Details

SNP ID

rs144632729

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:169702895 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGGTCGAGCAGCACCCGTTCGGC[C/G]AGGCCGCCTACCCCGCCGACGGCGC

Phenotype

MIM: 616987 MIM: 613069

Polymorphism

C/G, Transversion 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	784	Missense Mutation	CAG,GAG	Q146E	NP_001025034.1
NM_001317342.1	784	Missense Mutation	CAG,GAG	Q165E	NP_001304271.1

Gene

PHF10

Gene Name

PHD finger protein 10

There are no transcripts associated with this gene.

Gene

WDR27

Gene Name

WD repeat domain 27

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202550.1	784	Intron			NP_001189479.1
NM_182552.4	784	Intron			NP_872358.4
XM_011535682.2	784	Intron			XP_011533984.1
XM_011535684.2	784	Intron			XP_011533986.1
XM_011535685.2	784	Intron			XP_011533987.1
XM_011535687.2	784	Intron			XP_011533989.1
XM_011535688.2	784	Intron			XP_011533990.1
XM_011535689.2	784	Intron			XP_011533991.1
XM_011535690.2	784	Intron			XP_011533992.1
XM_011535691.2	784	Intron			XP_011533993.1
XM_011535692.2	784	Intron			XP_011533994.1
XM_011535693.2	784	Intron			XP_011533995.1
XM_011535694.2	784	Intron			XP_011533996.1
XM_011535696.2	784	Intron			XP_011533998.1
XM_011535697.2	784	Intron			XP_011533999.1
XM_017010658.1	784	Intron			XP_016866147.1
XM_017010659.1	784	Intron			XP_016866148.1
XM_017010660.1	784	Intron			XP_016866149.1
XM_017010661.1	784	Intron			XP_016866150.1
XM_017010662.1	784	Intron			XP_016866151.1
XM_017010663.1	784	Intron			XP_016866152.1
XM_017010664.1	784	Intron			XP_016866153.1
XM_017010665.1	784	Intron			XP_016866154.1
XM_017010666.1	784	Intron			XP_016866155.1
XM_017010667.1	784	Intron			XP_016866156.1
XM_017010668.1	784	Intron			XP_016866157.1
XM_017010669.1	784	Intron			XP_016866158.1
XM_017010670.1	784	Intron			XP_016866159.1
XM_017010671.1	784	Intron			XP_016866160.1
XM_017010672.1	784	Intron			XP_016866161.1
XM_017010673.1	784	Intron			XP_016866162.1
XM_017010674.1	784	Intron			XP_016866163.1
XM_017010675.1	784	Intron			XP_016866164.1

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