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SNP ID

rs138877089

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137205818 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTGGTGCTCTTCGGCAGCCAGA[C/G]AGGCACGGCTCAGGATGTGTCGGAG

Phenotype

MIM: 606073 MIM: 616499 MIM: 613354

Polymorphism

C/G, Transversion 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	131	Missense Mutation	ACA,AGA	T14R	NP_001137498.1
NM_001144027.2	131	Missense Mutation	ACA,AGA	T14R	NP_001137499.1
NM_001144028.2	131	Missense Mutation	ACA,AGA	T14R	NP_001137500.1
NM_014434.3	131	Missense Mutation	ACA,AGA	T14R	NP_055249.1
XM_011518545.1	131	Missense Mutation	ACA,AGA	T14R	XP_011516847.1
XM_011518547.1	131	Intron			XP_011516849.1
XM_011518548.2	131	UTR 5			XP_011516850.1
XM_017014626.1	131	Missense Mutation	ACA,AGA	T14R	XP_016870115.1
XM_017014627.1	131	Missense Mutation	ACA,AGA	T14R	XP_016870116.1

Gene

TMEM203

Gene Name

transmembrane protein 203

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_053045.1	131	Intron			NP_444273.1

Gene

TPRN

Gene Name

taperin

There are no transcripts associated with this gene.

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