Product Details

SNP ID
rs112879648
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:72221185 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCACCTCCCACCCAGGTGAATCAG[A/T]GCTGGCGCAAAGAACGCTTCCTGGA
Phenotype
MIM: 136425 MIM: 600829
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
FOLR2 PubMed Links

Gene Details

Gene
FOLR2
Gene Name
folate receptor beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000803.4 506 Missense Mutation AGC,TGC S117C NP_000794.3
NM_001113534.1 506 Missense Mutation AGC,TGC S117C NP_001107006.1
NM_001113535.1 506 Missense Mutation AGC,TGC S117C NP_001107007.1
NM_001113536.1 506 Missense Mutation AGC,TGC S117C NP_001107008.1
XM_005273856.3 506 Missense Mutation AGC,TGC S126C XP_005273913.1
Gene
INPPL1
Gene Name
inositol polyphosphate phosphatase like 1
There are no transcripts associated with this gene.

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