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SNP ID

rs141306639

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:74863943 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCACATTGGGGATGACCCCAAGC[C/T]TGGAGTCAAAGGGCACGCTTGGGTC

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	1272	Missense Mutation	AAG,AGG	K419R	NP_001244941.2
NM_001258013.3	1272	Missense Mutation	AAG,AGG	K407R	NP_001244942.2
NM_001258014.3	1272	Missense Mutation	AAG,AGG	K368R	NP_001244943.2
NM_001258015.2	1272	Missense Mutation	AAG,AGG	K336R	NP_001244944.1
NM_001258016.3	1272	Missense Mutation	AAG,AGG	K324R	NP_001244945.2
NM_004110.5	1272	Missense Mutation	AAG,AGG	K382R	NP_004101.3
NM_024417.4	1272	Missense Mutation	AAG,AGG	K376R	NP_077728.3
XM_006721772.1	1272	Missense Mutation	AAG,AGG	K377R	XP_006721835.1
XM_011524527.1	1272	Missense Mutation	AAG,AGG	K383R	XP_011522829.1
XM_011524528.1	1272	Missense Mutation	AAG,AGG	K380R	XP_011522830.1
XM_011524529.1	1272	Missense Mutation	AAG,AGG	K379R	XP_011522831.1
XM_011524531.2	1272	Missense Mutation	AAG,AGG	K331R	XP_011522833.1
XM_011524532.2	1272	Missense Mutation	AAG,AGG	K330R	XP_011522834.1
XM_011524533.2	1272	Missense Mutation	AAG,AGG	K325R	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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