Product Details

SNP ID

rs200079165

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:111875514 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAACTGCTCAGCTTAGAGCTCTCC[A/G]GCAATGTCTGGGTCAGCAGGCTATC

Phenotype

MIM: 606941

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ALG9 PubMed Links

Gene Details

Gene

ALG9

Gene Name

ALG9, alpha-1,2-mannosyltransferase

There are no transcripts associated with this gene.

Gene

C11orf1

Gene Name

chromosome 11 open reading frame 1

There are no transcripts associated with this gene.

Gene

FDXACB1

Gene Name

ferredoxin-fold anticodon binding domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138378.2	1608	Missense Mutation	CCG,CTG	P428L	NP_612387.1

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