Product Details

SNP ID
rs201416465
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:162374587 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAGTGCAGTTCCGCCTCAGCTTCT[C/T]TCCGTGCTGGGTATCCCCCAAGCTG
Phenotype
MIM: 605551
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C1orf111 PubMed Links

Gene Details

Gene
C1orf111
Gene Name
chromosome 1 open reading frame 111
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_182581.3 311 Missense Mutation AAG,GAG K83E NP_872387.2
XM_005245103.3 311 Missense Mutation AAG,GAG K45E XP_005245160.1
XM_011509443.2 311 Missense Mutation AAG,GAG K102E XP_011507745.1
XM_011509444.1 311 Missense Mutation AAG,GAG K33E XP_011507746.1
XM_011509445.2 311 Silent Mutation GAA,GAG E150E XP_011507747.1
Gene
C1orf226
Gene Name
chromosome 1 open reading frame 226
There are no transcripts associated with this gene.

Gene
NOS1AP
Gene Name
nitric oxide synthase 1 adaptor protein
There are no transcripts associated with this gene.

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