Product Details

SNP ID

rs80203913

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:180154993 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTCGCGGTTCCCGGCGCTAACG[C/T]GGCCCCGCGGTCGGCGCTCTATTCG

Phenotype

MIM: 603120

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

QSOX1 PubMed Links

Gene Details

Gene

QSOX1

Gene Name

quiescin sulfhydryl oxidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001004128.2	161	Missense Mutation	GCG,GTG	A29V	NP_001004128.1
NM_002826.4	161	Missense Mutation	GCG,GTG	A29V	NP_002817.2

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