Product Details

SNP ID
rs145542336
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:67419773 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGATGGTCCTTCACCCGGCCCC[A/G]GCCTGGCCGTGCGAATCTGTGCTGT
Phenotype
MIM: 613368 MIM: 608939 MIM: 610831
Polymorphism
A/G, 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 1131 Missense Mutation AGC,GGC S350G NP_001159694.1
NM_020811.1 1131 Missense Mutation AGC,GGC S227G NP_065862.1
XM_011545189.2 1131 Missense Mutation AGC,GGC S350G XP_011543491.1
XM_011545191.2 1131 Missense Mutation AGC,GGC S366G XP_011543493.1
XM_017018054.1 1131 Missense Mutation AGC,GGC S366G XP_016873543.1
XM_017018055.1 1131 Missense Mutation AGC,GGC S336G 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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