Product Details

SNP ID
rs386833744
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:28482173 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGAGAGAAGAGCGGGAGGCAAAGA[A/C]GCCAGCCTGGTACAGCATCTGGTAC
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 1160 Missense Mutation NP_000077.1
NM_001042432.1 1160 Missense Mutation NP_001035897.1
NM_001286104.1 1160 Missense Mutation NP_001273033.1
NM_001286105.1 1160 Missense Mutation NP_001273034.1
NM_001286109.1 1160 Missense Mutation NP_001273038.1
NM_001286110.1 1160 Missense Mutation NP_001273039.1

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