Product Details

SNP ID
rs201530272
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:99710875 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCCAACATGCCAGGCTACGAATC[C/T]GGTCATTGCATAGGTTTTCCATGAA
Phenotype
MIM: 611578
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FRRS1 PubMed Links

Gene Details

Gene
FRRS1
Gene Name
ferric chelate reductase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013660.2 1684 Missense Mutation AGA,GGA R519G NP_001013682.2
XM_005270861.3 1684 Missense Mutation AGA,GGA R519G XP_005270918.1
XM_011541451.2 1684 Missense Mutation AGA,GGA R519G XP_011539753.1
XM_011541452.1 1684 Intron XP_011539754.1
XM_017001271.1 1684 Missense Mutation AGA,GGA R519G XP_016856760.1

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