Product Details

SNP ID
rs201796252
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:66849001 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATGGGTGAGGTCACCACAGTCTC[A/C]ATCTTCATGGCACTGAGCACACACA
Phenotype
MIM: 616109 MIM: 612810 MIM: 608786 MIM: 605385
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
C11orf80 PubMed Links

Gene Details

Gene
C11orf80
Gene Name
chromosome 11 open reading frame 80
There are no transcripts associated with this gene.

Gene
LRFN4
Gene Name
leucine rich repeat and fibronectin type III domain containing 4
There are no transcripts associated with this gene.

Gene
PC
Gene Name
pyruvate carboxylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000920.3 3576 Missense Mutation NP_000911.2
NM_001040716.1 3576 Missense Mutation NP_001035806.1
NM_022172.2 3576 Missense Mutation NP_071504.2
XM_005274031.4 3576 Missense Mutation XP_005274088.1
XM_005274032.4 3576 Missense Mutation XP_005274089.1
XM_006718578.3 3576 Missense Mutation XP_006718641.1
XM_006718579.3 3576 Missense Mutation XP_006718642.1
XM_011545086.2 3576 Missense Mutation XP_011543388.1
XM_011545087.2 3576 Missense Mutation XP_011543389.1
XM_017017868.1 3576 Missense Mutation XP_016873357.1
XM_017017869.1 3576 Missense Mutation XP_016873358.1
XM_017017870.1 3576 Missense Mutation XP_016873359.1
XM_017017871.1 3576 Missense Mutation XP_016873360.1
XM_017017872.1 3576 Missense Mutation XP_016873361.1
Gene
RCE1
Gene Name
Ras converting CAAX endopeptidase 1
There are no transcripts associated with this gene.

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