Product Details

SNP ID

rs189445112

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:74863955 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGACCCCAAGCTTGGAGTCAAAG[A/G]GCACGCTTGGGTCGACAGGGCGGCT

Phenotype

MIM: 103270 MIM: 138254

Polymorphism

A/G, 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	1260	Missense Mutation	CCC,CTC	P415L	NP_001244941.2
NM_001258013.3	1260	Missense Mutation	CCC,CTC	P403L	NP_001244942.2
NM_001258014.3	1260	Missense Mutation	CCC,CTC	P364L	NP_001244943.2
NM_001258015.2	1260	Missense Mutation	CCC,CTC	P332L	NP_001244944.1
NM_001258016.3	1260	Missense Mutation	CCC,CTC	P320L	NP_001244945.2
NM_004110.5	1260	Missense Mutation	CCC,CTC	P378L	NP_004101.3
NM_024417.4	1260	Missense Mutation	CCC,CTC	P372L	NP_077728.3
XM_006721772.1	1260	Missense Mutation	CCC,CTC	P373L	XP_006721835.1
XM_011524527.1	1260	Missense Mutation	CCC,CTC	P379L	XP_011522829.1
XM_011524528.1	1260	Missense Mutation	CCC,CTC	P376L	XP_011522830.1
XM_011524529.1	1260	Missense Mutation	CCC,CTC	P375L	XP_011522831.1
XM_011524531.2	1260	Missense Mutation	CCC,CTC	P327L	XP_011522833.1
XM_011524532.2	1260	Missense Mutation	CCC,CTC	P326L	XP_011522834.1
XM_011524533.2	1260	Missense Mutation	CCC,CTC	P321L	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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