Product Details

SNP ID

rs200522460

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:116877418 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCCGGAAGAAACAGTGTACCTGG[C/T]GGCCGAAGGGCAGCCCGGGGGCGAG

Phenotype

MIM: 612659

Polymorphism

C/T, Transition 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	206	Missense Mutation	GCG,GTG	A48V	NP_775831.2
XM_011535589.1	206	Missense Mutation	GCG,GTG	A48V	XP_011533891.1
XM_017010477.1	206	Intron			XP_016865966.1

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