Product Details

SNP ID

rs5174

Assay Type

Validated

NCBI dbSNP Submissions

82

Location

Chr.1:53247055 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

ATCATCTTCAAGGCTTAATGCCACT[C/T]GCTGGGGAGACAAACCAAAGAATTC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001018054.2	2649	Missense Mutation	CAA,CGA	Q893R	NP_001018064.1
NM_004631.4	2649	Missense Mutation	CAA,CGA	Q952R	NP_004622.2
NM_017522.4	2649	Missense Mutation	CAA,CGA	Q689R	NP_059992.3
NM_033300.3	2649	Missense Mutation	CAA,CGA	Q782R	NP_150643.2
XM_005271173.3	2649	Missense Mutation	CAA,CGA	Q965R	XP_005271230.1
XM_005271174.3	2649	Missense Mutation	CAA,CGA	Q836R	XP_005271231.1
XM_005271175.3	2649	Missense Mutation	CAA,CGA	Q823R	XP_005271232.1
XM_006710881.3	2649	Missense Mutation	CAA,CGA	Q906R	XP_006710944.1
XM_006710882.3	2649	Missense Mutation	CAA,CGA	Q890R	XP_006710945.1
XM_011542094.2	2649	Missense Mutation	CAA,CGA	Q923R	XP_011540396.1
XM_011542095.2	2649	Missense Mutation	CAA,CGA	Q793R	XP_011540397.1
XM_011542096.2	2649	Intron			XP_011540398.1
XM_017002265.1	2649	Missense Mutation	CAA,CGA	Q910R	XP_016857754.1
XM_017002266.1	2649	Missense Mutation	CAA,CGA	Q831R	XP_016857755.1
XM_017002267.1	2649	Missense Mutation	CAA,CGA	Q546R	XP_016857756.1
XM_017002268.1	2649	Missense Mutation	CAA,CGA	Q546R	XP_016857757.1

Gene

MAGOH

Gene Name

mago homolog, exon junction complex core component

There are no transcripts associated with this gene.

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