Product Details

SNP ID

rs140510882

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:116877401 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAAGGGCTTGCTAGTCTATCCGGA[A/T]GAAACAGTGTACCTGGCGGCCGAAG

Phenotype

MIM: 612659

Polymorphism

A/T, 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	189	Missense Mutation	GAA,GAT	E42D	NP_775831.2
XM_011535589.1	189	Missense Mutation	GAA,GAT	E42D	XP_011533891.1
XM_017010477.1	189	Intron			XP_016865966.1

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