Product Details

SNP ID
rs185221600
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:67418435 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCATGTTCTCTTTCCCGAGGCTG[C/T]CCTGGGGCGGAGGTGACCTTGTGCG
Phenotype
MIM: 613368 MIM: 610831
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CARNS1 PubMed Links

Gene Details

Gene
CARNS1
Gene Name
carnosine synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166222.1 362 Silent Mutation TGC,TGT C93C NP_001159694.1
NM_020811.1 362 UTR 5 NP_065862.1
XM_011545189.2 362 Silent Mutation TGC,TGT C93C XP_011543491.1
XM_011545191.2 362 Silent Mutation TGC,TGT C109C XP_011543493.1
XM_017018054.1 362 Silent Mutation TGC,TGT C109C XP_016873543.1
XM_017018055.1 362 Intron XP_016873544.1
Gene
TBC1D10C
Gene Name
TBC1 domain family member 10C
There are no transcripts associated with this gene.

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