Product Details

SNP ID

rs193240312

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:36819767 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCGGGGCAGCGGTGGGGGCAGCA[C/T]GAGCAAGACCTGCACCTACGAAGGC

Phenotype

MIM: 601861

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RFXAP PubMed Links

Gene Details

Gene

RFXAP

Gene Name

regulatory factor X associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000538.3	566	Missense Mutation	ACG,ATG	T137M	NP_000529.1

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