Product Details

SNP ID
rs113594178
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:74863142 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGGGCCAGAGGGGAGCAACCCAG[A/C]CTTCAGGTCCTGCAGCAGCATCTGG
Phenotype
MIM: 103270 MIM: 138254
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
FDXR PubMed Links

Gene Details

Gene
FDXR
Gene Name
ferredoxin reductase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258012.3 1424 Missense Mutation GCT,TCT A470S NP_001244941.2
NM_001258013.3 1424 Missense Mutation GCT,TCT A458S NP_001244942.2
NM_001258014.3 1424 Missense Mutation GCT,TCT A419S NP_001244943.2
NM_001258015.2 1424 Missense Mutation GCT,TCT A387S NP_001244944.1
NM_001258016.3 1424 Missense Mutation GCT,TCT A375S NP_001244945.2
NM_004110.5 1424 Missense Mutation GCT,TCT A433S NP_004101.3
NM_024417.4 1424 Missense Mutation GCT,TCT A427S NP_077728.3
XM_006721772.1 1424 Missense Mutation GCT,TCT A428S XP_006721835.1
XM_011524527.1 1424 Missense Mutation GCT,TCT A434S XP_011522829.1
XM_011524528.1 1424 Missense Mutation GCT,TCT A431S XP_011522830.1
XM_011524529.1 1424 Missense Mutation GCT,TCT A430S XP_011522831.1
XM_011524531.2 1424 Missense Mutation GCT,TCT A382S XP_011522833.1
XM_011524532.2 1424 Missense Mutation GCT,TCT A381S XP_011522834.1
XM_011524533.2 1424 Missense Mutation GCT,TCT A376S XP_011522835.1
Gene
GRIN2C
Gene Name
glutamate ionotropic receptor NMDA type subunit 2C
There are no transcripts associated with this gene.

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