Product Details

SNP ID
rs143930092
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:14614918 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCTGGTCCTTCATCCCAGTCAGC[A/C]AGTAGGTAGTCTCATTTCCTCTTCC
Phenotype
MIM: 601330
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
C12orf60 PubMed Links

Gene Details

Gene
C12orf60
Gene Name
chromosome 12 open reading frame 60
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_175874.3 3133 Intron NP_787070.2
XM_005253322.4 3133 Intron XP_005253379.1
XM_011520568.2 3133 Intron XP_011518870.1
XM_011520569.2 3133 Intron XP_011518871.1
XM_017018871.1 3133 Intron XP_016874360.1
XM_017018872.1 3133 Intron XP_016874361.1
XM_017018873.1 3133 Intron XP_016874362.1
XM_017018874.1 3133 Intron XP_016874363.1
Gene
GUCY2C
Gene Name
guanylate cyclase 2C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004963.3 3133 Missense Mutation TGG,TTG W999L NP_004954.2
XM_011520631.2 3133 Missense Mutation TGG,TTG W917L XP_011518933.1
Gene
PLBD1-AS1
Gene Name
PLBD1 antisense RNA 1
There are no transcripts associated with this gene.

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