Product Details

SNP ID

rs1800221

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:94400238 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCAGAGATGGTGAAGATGGTCCC[A/C]CAGGCCCTCCTGGTCCACCTGGTCC

Phenotype

MIM: 120160

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

COL1A2 PubMed Links

Gene Details

Gene

COL1A2

Gene Name

collagen type I alpha 2 chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000089.3	646	Missense Mutation	ACA,CCA	T59P	NP_000080.2

View Full Product Details