Product Details

SNP ID

rs142120325

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:16825012 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTAATCGGAATGCGGATGGACGC[C/T]GTGCATAATCAGCATGAAATTTTAT

Phenotype

MIM: 602997 MIM: 179555

Polymorphism

C/T, 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	7250	Missense Mutation	CAG,CGG	Q3612R	NP_001072.2
XM_011519708.2	7250	Intron			XP_011518010.1
XM_011519709.2	7250	Missense Mutation	CAG,CGG	Q2274R	XP_011518011.1
XM_011519710.2	7250	Missense Mutation	CAG,CGG	Q2266R	XP_011518012.1
XM_011519711.2	7250	Missense Mutation	CAG,CGG	Q2226R	XP_011518013.1

Gene

RSU1

Gene Name

Ras suppressor protein 1

There are no transcripts associated with this gene.

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