Product Details

SNP ID
rs144408240
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:67418914 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCCCCCCGCGCCGTGCCACCTAC[A/T]TTTTGGCAGGCCTGGGCCTGGGGCC
Phenotype
MIM: 613368 MIM: 608939 MIM: 610831
Polymorphism
A/T, Transversion 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_001166222.1 606 Missense Mutation ATT,TTT I175F NP_001159694.1
NM_020811.1 606 Missense Mutation ATT,TTT I52F NP_065862.1
XM_011545189.2 606 Missense Mutation ATT,TTT I175F XP_011543491.1
XM_011545191.2 606 Missense Mutation ATT,TTT I191F XP_011543493.1
XM_017018054.1 606 Missense Mutation ATT,TTT I191F XP_016873543.1
XM_017018055.1 606 Missense Mutation ATT,TTT I161F 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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