Product Details

SNP ID

rs200278401

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:94395083 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGTTGCTGCTTGCAGTAACCTTA[C/T]GCCTAGCAACATGCCAATGTAAGTG

Phenotype

MIM: 120160

Polymorphism

C/T, Transition 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	523	Missense Mutation	CGC,TGC	R18C	NP_000080.2

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