Product Details

SNP ID

rs148626202

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:16825009 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAGTTAATCGGAATGCGGATGGA[C/T]GCCGTGCATAATCAGCATGAAATTT

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	7253	Missense Mutation	CAT,CGT	H3613R	NP_001072.2
XM_011519708.2	7253	Intron			XP_011518010.1
XM_011519709.2	7253	Missense Mutation	CAT,CGT	H2275R	XP_011518011.1
XM_011519710.2	7253	Missense Mutation	CAT,CGT	H2267R	XP_011518012.1
XM_011519711.2	7253	Missense Mutation	CAT,CGT	H2227R	XP_011518013.1

Gene

RSU1

Gene Name

Ras suppressor protein 1

There are no transcripts associated with this gene.

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