Product Details

SNP ID

rs151134377

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:16825013 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTAATCGGAATGCGGATGGACGCC[A/G]TGCATAATCAGCATGAAATTTTATG

Phenotype

MIM: 602997 MIM: 179555

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CUBN PubMed Links

Gene Details

Gene

CUBN

Gene Name

cubilin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001081.3	7249	Missense Mutation	CGG,TGG	R3612W	NP_001072.2
XM_011519708.2	7249	Intron			XP_011518010.1
XM_011519709.2	7249	Missense Mutation	CGG,TGG	R2274W	XP_011518011.1
XM_011519710.2	7249	Missense Mutation	CGG,TGG	R2266W	XP_011518012.1
XM_011519711.2	7249	Missense Mutation	CGG,TGG	R2226W	XP_011518013.1

Gene

RSU1

Gene Name

Ras suppressor protein 1

There are no transcripts associated with this gene.

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