Product Details

SNP ID: rs201307659
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.8:71844096 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCGCTCTACGCCGCGGAGGGGCGGC[C/T]TCTTGGAGGCGGGGACCGGGTACTC
Phenotype: MIM: 603628
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: MSC PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005098.3	401	Missense Mutation	AAG,AGG	K28R	NP_005089.2

There are no transcripts associated with this gene.