Product Details

SNP ID
rs61744660
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:67418816 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAAGGTGCCAGCACCCGGGCAGC[C/T]GGGTGAGGCAGCCCTGCTAGTCTCC
Phenotype
MIM: 613368 MIM: 608939 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_001166222.1 508 Missense Mutation CCG,CTG P142L NP_001159694.1
NM_020811.1 508 Missense Mutation CCG,CTG P19L NP_065862.1
XM_011545189.2 508 Missense Mutation CCG,CTG P142L XP_011543491.1
XM_011545191.2 508 Missense Mutation CCG,CTG P158L XP_011543493.1
XM_017018054.1 508 Missense Mutation CCG,CTG P158L XP_016873543.1
XM_017018055.1 508 Missense Mutation CCG,CTG P128L XP_016873544.1
Gene
RPS6KB2
Gene Name
ribosomal protein S6 kinase B2
There are no transcripts associated with this gene.

Gene
TBC1D10C
Gene Name
TBC1 domain family member 10C
There are no transcripts associated with this gene.

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