Product Details

SNP ID: rs189678026
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:66843598 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTCTCCTGCCTCAGCCTCGCCTGCT[C/G]CTACGTGGGCAGCCTCTACGTCTGG
Phenotype: MIM: 616109 MIM: 608786 MIM: 605385
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: C11orf80 PubMed Links

Gene Details

Gene: C11orf80
Gene Name: chromosome 11 open reading frame 80

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001302084.1	187	Intron			NP_001289013.1
NM_024650.3	187	Intron			NP_078926.3

Gene: PC
Gene Name: pyruvate carboxylase

There are no transcripts associated with this gene.

Gene: RCE1
Gene Name: Ras converting CAAX endopeptidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001032279.1	187	UTR 5			NP_001027450.1
NM_005133.2	187	Missense Mutation	TCC,TGC	S48C	NP_005124.1

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