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SNP ID

rs146539535

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:74863219 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGGCTATGACACCTGTAGGTCCT[C/T]TCTTCACCCAGCCGCTGCAGTAGAG

Phenotype

MIM: 103270 MIM: 138254

Polymorphism

C/T, Transition 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	1347	Missense Mutation	AAA,AGA	K444R	NP_001244941.2
NM_001258013.3	1347	Missense Mutation	AAA,AGA	K432R	NP_001244942.2
NM_001258014.3	1347	Missense Mutation	AAA,AGA	K393R	NP_001244943.2
NM_001258015.2	1347	Missense Mutation	AAA,AGA	K361R	NP_001244944.1
NM_001258016.3	1347	Missense Mutation	AAA,AGA	K349R	NP_001244945.2
NM_004110.5	1347	Missense Mutation	AAA,AGA	K407R	NP_004101.3
NM_024417.4	1347	Missense Mutation	AAA,AGA	K401R	NP_077728.3
XM_006721772.1	1347	Missense Mutation	AAA,AGA	K402R	XP_006721835.1
XM_011524527.1	1347	Missense Mutation	AAA,AGA	K408R	XP_011522829.1
XM_011524528.1	1347	Missense Mutation	AAA,AGA	K405R	XP_011522830.1
XM_011524529.1	1347	Missense Mutation	AAA,AGA	K404R	XP_011522831.1
XM_011524531.2	1347	Missense Mutation	AAA,AGA	K356R	XP_011522833.1
XM_011524532.2	1347	Missense Mutation	AAA,AGA	K355R	XP_011522834.1
XM_011524533.2	1347	Missense Mutation	AAA,AGA	K350R	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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