Product Details

SNP ID

rs104894496

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:22786790 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTCGAGCCTGGTGAACGGGTCCA[C/G]GTTCGTGCTACAGAAGAAGGGCATC

Phenotype

MIM: 608145

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LOC283683 PubMed Links

Gene Details

Gene

LOC283683

Gene Name

uncharacterized LOC283683

There are no transcripts associated with this gene.

Gene

NIPA1

Gene Name

non imprinted in Prader-Willi/Angelman syndrome 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142275.1	159	Intron			NP_001135747.1
NM_144599.4	159	Missense Mutation	ACG,AGG	T45R	NP_653200.2

View Full Product Details