Product Details

SNP ID: rs115349578
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:73560475 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTCACAGGTTAAGCCCTTAAAATTA[C/T]AGATTTCAGTTTATATTACTCATCT
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	1970	UTR 3			NP_001154835.1
NM_001161364.1	1970	UTR 3			NP_001154836.1
NM_012428.3	1970	UTR 3			NP_036560.1
NM_017455.3	1970	UTR 3			NP_059429.1
XM_011521452.2	1970	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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042367.1	1970	Intron			NP_001035826.1
XM_017022083.1	1970	Intron			XP_016877572.1

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