Product Details

SNP ID
rs146467602
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:28477863 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAACCACACGTCTGCCAGCAGGAA[A/C]ACCAGGTTGAGGCACTGTGAACAGG
Phenotype
MIM: 607042
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CLN3 PubMed Links

Gene Details

Gene
CLN3
Gene Name
CLN3, battenin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000086.2 1243 Silent Mutation GTG,GTT V357V NP_000077.1
NM_001042432.1 1243 Silent Mutation GTG,GTT V357V NP_001035897.1
NM_001286104.1 1243 Silent Mutation GTG,GTT V333V NP_001273033.1
NM_001286105.1 1243 Silent Mutation GTG,GTT V257V NP_001273034.1
NM_001286109.1 1243 Silent Mutation GTG,GTT V279V NP_001273038.1
NM_001286110.1 1243 Silent Mutation GTG,GTT V303V NP_001273039.1

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