Product Details

SNP ID

rs140716826

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:43214119 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGCATTTCTATTTCATTTGCAGA[C/T]ATCTGTTAGAAAGGAAGGAAAGTCA

Phenotype

MIM: 610914

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ENOX1 PubMed Links

Gene Details

Gene

ENOX1

Gene Name

ecto-NOX disulfide-thiol exchanger 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127615.1	2416	Missense Mutation	ATA,ATG	I601M	NP_001121087.1
NM_001242863.1	2416	Missense Mutation	ATA,ATG	I601M	NP_001229792.1
NM_017993.3	2416	Missense Mutation	ATA,ATG	I601M	NP_060463.2
XM_005266439.3	2416	Missense Mutation	ATA,ATG	I601M	XP_005266496.1
XM_011535126.2	2416	Missense Mutation	ATA,ATG	I601M	XP_011533428.1
XM_011535127.2	2416	Missense Mutation	ATA,ATG	I601M	XP_011533429.1
XM_011535128.2	2416	Missense Mutation	ATA,ATG	I601M	XP_011533430.1
XM_011535132.2	2416	Missense Mutation	ATA,ATG	I562M	XP_011533434.1
XM_017020637.1	2416	Missense Mutation	ATA,ATG	I601M	XP_016876126.1
XM_017020638.1	2416	Missense Mutation	ATA,ATG	I601M	XP_016876127.1
XM_017020639.1	2416	Missense Mutation	ATA,ATG	I601M	XP_016876128.1
XM_017020640.1	2416	Missense Mutation	ATA,ATG	I562M	XP_016876129.1
XM_017020641.1	2416	Intron			XP_016876130.1
XM_017020642.1	2416	Intron			XP_016876131.1

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