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SNP ID: rs188552066
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:45906606 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATCATAGTAATACTCGGCAAGGTCG[C/G]GCCCGTCCCGCTTGCGCTGCTGGGC
Phenotype: MIM: 604641 MIM: 603360
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: C11orf94 PubMed Links

Gene Details

Gene: C11orf94
Gene Name: chromosome 11 open reading frame 94

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080446.2	297	Missense Mutation	CCC,CGC	P87R	NP_001073915.2

Gene: MAPK8IP1
Gene Name: mitogen-activated protein kinase 8 interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005456.3	297	Intron			NP_005447.1
XM_005253226.3	297	Intron			XP_005253283.1

Gene: PEX16
Gene Name: peroxisomal biogenesis factor 16

There are no transcripts associated with this gene.

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