Product Details

SNP ID
rs1132349
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:45913833 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TGGGTGCTTACTCGGAGAAGCGGTC[A/G]TAGAAAGGAGAGCGCAGCAGGTAGT
Phenotype
MIM: 609709 MIM: 604641 MIM: 603360
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
C11orf94 PubMed Links

Gene Details

Gene
C11orf94
Gene Name
chromosome 11 open reading frame 94
There are no transcripts associated with this gene.

Gene
LARGE2
Gene Name
LARGE xylosyl- and glucuronyltransferase 2
There are no transcripts associated with this gene.

Gene
MAPK8IP1
Gene Name
mitogen-activated protein kinase 8 interacting protein 1
There are no transcripts associated with this gene.

Gene
PEX16
Gene Name
peroxisomal biogenesis factor 16
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004813.2 1185 Silent Mutation TAA,TAG *291* NP_004804.1
NM_057174.2 1185 Silent Mutation TAA,TAG *291* NP_476515.1
XM_011520474.1 1185 Nonsense Mutation TAA,TAG *250* XP_011518776.1

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