Product Details

SNP ID

rs201996097

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:116877498 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCTGCCGGGGGCAGTGAAATCA[C/G]GTGAGTGCTCTGCCGCATCCGGAGC

Phenotype

MIM: 612659

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

RFX6 PubMed Links

Gene Details

Gene

RFX6

Gene Name

regulatory factor X6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173560.3	286	Missense Mutation	CAA,GAA	Q75E	NP_775831.2
XM_011535589.1	286	Missense Mutation	CAA,GAA	Q75E	XP_011533891.1
XM_017010477.1	286	Intron			XP_016865966.1

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