Product Details

SNP ID

rs140348522

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:53233421 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTCTATTTCTCTTTGTATCTCCA[C/T]AATGCTTTGTCCATAGTAGTTAGTA

Phenotype

MIM: 602600 MIM: 602603

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC100507564 PubMed Links

Gene Details

Gene

LOC100507564

Gene Name

uncharacterized LOC100507564

There are no transcripts associated with this gene.

Gene

LRP8

Gene Name

LDL receptor related protein 8

There are no transcripts associated with this gene.

Gene

MAGOH

Gene Name

mago homolog, exon junction complex core component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002370.3		Intron			NP_002361.1

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