Product Details

SNP ID

rs201137000

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:94400232 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCCCAGGCAGAGATGGTGAAGAT[A/G]GTCCCACAGGCCCTCCTGGTCCACC

Phenotype

MIM: 120160

Polymorphism

A/G, 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	640	Missense Mutation	AGT,GGT	S57G	NP_000080.2

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