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TGTGGCTATGACACCTGTAGGTCCT[C/T]TCTTCACCCAGCCGCTGCAGTAGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 103270 MIM: 138254 | ||||||||||||||||||||
Literature Links: |
FDXR PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
FDXR - ferredoxin reductase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001258012.3 | 1347 | Missense Mutation | AAA,AGA | K,R 444 | NP_001244941.2 | |
NM_001258013.3 | 1347 | Missense Mutation | AAA,AGA | K,R 432 | NP_001244942.2 | |
NM_001258014.3 | 1347 | Missense Mutation | AAA,AGA | K,R 393 | NP_001244943.2 | |
NM_001258015.2 | 1347 | Missense Mutation | AAA,AGA | K,R 361 | NP_001244944.1 | |
NM_001258016.3 | 1347 | Missense Mutation | AAA,AGA | K,R 349 | NP_001244945.2 | |
NM_004110.5 | 1347 | Missense Mutation | AAA,AGA | K,R 407 | NP_004101.3 | |
NM_024417.4 | 1347 | Missense Mutation | AAA,AGA | K,R 401 | NP_077728.3 | |
XM_006721772.1 | 1347 | Missense Mutation | AAA,AGA | K,R 402 | XP_006721835.1 | |
XM_011524527.1 | 1347 | Missense Mutation | AAA,AGA | K,R 408 | XP_011522829.1 | |
XM_011524528.1 | 1347 | Missense Mutation | AAA,AGA | K,R 405 | XP_011522830.1 | |
XM_011524529.1 | 1347 | Missense Mutation | AAA,AGA | K,R 404 | XP_011522831.1 | |
XM_011524531.2 | 1347 | Missense Mutation | AAA,AGA | K,R 356 | XP_011522833.1 | |
XM_011524532.2 | 1347 | Missense Mutation | AAA,AGA | K,R 355 | XP_011522834.1 | |
XM_011524533.2 | 1347 | Missense Mutation | AAA,AGA | K,R 350 | XP_011522835.1 |
GRIN2C - glutamate ionotropic receptor NMDA type subunit 2C | ||||||
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There are no transcripts associated with this gene. |