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SNP ID: rs201362033
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:111879571 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTCACCTCGTCTGAAATGGCTGCCT[C/T]CCAGTGTCTCTGCTGCTCAAAATTT
Phenotype: MIM: 606941
Polymorphism: C/T, 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022761.2	53	Missense Mutation	TCC,TTC	S4F	NP_073598.1
XM_011542957.2	53	UTR 5			XP_011541259.1
XM_011542958.2	53	UTR 5			XP_011541260.1
XM_017018129.1	53	Missense Mutation	TCC,TTC	S4F	XP_016873618.1

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	53	Intron			NP_612387.1

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