Product Details

SNP ID
rs148514847
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:28477771 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGTTGTGGAAGGTGTTCACGTAG[A/G]CTGCGCCTCCCAGGAGCCCCTCATA
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 1335 Missense Mutation GCC,GTC A388V NP_000077.1
NM_001042432.1 1335 Missense Mutation GCC,GTC A388V NP_001035897.1
NM_001286104.1 1335 Missense Mutation GCC,GTC A364V NP_001273033.1
NM_001286105.1 1335 Missense Mutation GCC,GTC A288V NP_001273034.1
NM_001286109.1 1335 Missense Mutation GCC,GTC A310V NP_001273038.1
NM_001286110.1 1335 Missense Mutation GCC,GTC A334V NP_001273039.1

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