Product Details

SNP ID
rs140828382
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:28482159 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATGCGACAGCAGCGGAGAGAAGA[A/G]CGGGAGGCAAAGACGCCAGCCTGGT
Phenotype
MIM: 607042
Polymorphism
A/G, Transition 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 1174 Silent Mutation CGC,CGT R334R NP_000077.1
NM_001042432.1 1174 Silent Mutation CGC,CGT R334R NP_001035897.1
NM_001286104.1 1174 Silent Mutation CGC,CGT R310R NP_001273033.1
NM_001286105.1 1174 Silent Mutation CGC,CGT R234R NP_001273034.1
NM_001286109.1 1174 Silent Mutation CGC,CGT R256R NP_001273038.1
NM_001286110.1 1174 Silent Mutation CGC,CGT R280R NP_001273039.1

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