Product Details

SNP ID
rs200660106
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:67432755 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCAGCTTCTACCTGGCTGAGAT[A/C]ACGCTGGCCCTGGGCCATCTCCACT
Phenotype
MIM: 613368 MIM: 609849 MIM: 601577 MIM: 608939
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CARNS1 PubMed Links

Gene Details

Gene
CARNS1
Gene Name
carnosine synthase 1
There are no transcripts associated with this gene.

Gene
CORO1B
Gene Name
coronin 1B
There are no transcripts associated with this gene.

Gene
PTPRCAP
Gene Name
protein tyrosine phosphatase, receptor type C associated protein
There are no transcripts associated with this gene.

Gene
RPS6KB2
Gene Name
ribosomal protein S6 kinase B2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003952.2 564 Silent Mutation ATA,ATC I178I NP_003943.2
XM_005274164.1 564 Silent Mutation ATA,ATC I81I XP_005274221.1
XM_005274165.4 564 UTR 5 XP_005274222.1
XM_006718655.3 564 UTR 5 XP_006718718.1
XM_006718656.3 564 UTR 5 XP_006718719.1
XM_006718657.1 564 UTR 5 XP_006718720.1
XM_017018108.1 564 UTR 5 XP_016873597.1

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