Product Details

SNP ID

rs145932402

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137213851 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGGCAGCGCCCTCCTGCCCGTGT[A/G]CCTGGGCGATGACCAGCATGAGCTG

Phenotype

MIM: 606073 MIM: 616499

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NDOR1 PubMed Links

Gene Details

Gene

NDOR1

Gene Name

NADPH dependent diflavin oxidoreductase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144026.2	1653	Missense Mutation	TAC,TGC	Y128C	NP_001137498.1
NM_001144027.2	1653	Missense Mutation	TAC,TGC	Y128C	NP_001137499.1
NM_001144028.2	1653	Missense Mutation	TAC,TGC	Y128C	NP_001137500.1
NM_014434.3	1653	Missense Mutation	TAC,TGC	Y128C	NP_055249.1
XM_011518545.1	1653	Missense Mutation	TAC,TGC	Y128C	XP_011516847.1
XM_011518547.1	1653	Missense Mutation	TAC,TGC	Y59C	XP_011516849.1
XM_011518548.2	1653	UTR 5			XP_011516850.1
XM_017014626.1	1653	Missense Mutation	TAC,TGC	Y128C	XP_016870115.1
XM_017014627.1	1653	Missense Mutation	TAC,TGC	Y128C	XP_016870116.1

Gene

RNF208

Gene Name

ring finger protein 208

There are no transcripts associated with this gene.

Gene

TMEM203

Gene Name

transmembrane protein 203

There are no transcripts associated with this gene.

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