Product Details

SNP ID
rs143359747
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:73561957 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTTTTTATCTTTGTGATTGTTGG[C/T]AGAGTTGGTTTTCCTTTGGAGGAAA
Phenotype
MIM: 612820 MIM: 615176
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NPTN PubMed Links

Gene Details

Gene
NPTN
Gene Name
neuroplastin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001161363.1 1335 Missense Mutation ACC,GCC T380A NP_001154835.1
NM_001161364.1 1335 Missense Mutation ACC,GCC T264A NP_001154836.1
NM_012428.3 1335 Missense Mutation ACC,GCC T384A NP_036560.1
NM_017455.3 1335 Missense Mutation ACC,GCC T268A NP_059429.1
XM_011521452.2 1335 Intron XP_011519754.1
Gene
NPTN-IT1
Gene Name
NPTN intronic transcript 1
There are no transcripts associated with this gene.

Gene
REC114
Gene Name
REC114 meiotic recombination protein
There are no transcripts associated with this gene.

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