Product Details

SNP ID

rs146486656

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:45910168 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCGGTAGGCACGGAGAGGCCGCA[C/T]GCTGGGACGCTGCCGGAGTCAGTTT

Phenotype

MIM: 604641 MIM: 603360

Polymorphism

C/T, 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

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	1409	UTR 3			NP_004804.1
NM_057174.2	1409	Missense Mutation	CAT,CGT	H321R	NP_476515.1
XM_011520474.1	1409	Intron			XP_011518776.1

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