Product Details

SNP ID

rs116217447

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:73567221 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAGACTGCCCAAAATATGACGAC[C/T]GTGCATTCATATAAAAAAAGTTCAG

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		Intron			NP_001154835.1
NM_001161364.1		Intron			NP_001154836.1
NM_012428.3		Intron			NP_036560.1
NM_017455.3		Intron			NP_059429.1
XM_011521452.2		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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