Product Details

SNP ID

rs117590827

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:46110072 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCATGGTACCTGGCCATGTCCTCTC[A/G]CAGCCTGGGGCAGGGTCTCCAGACC

Phenotype

MIM: 120240

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COL6A2 PubMed Links

Gene Details

Gene

COL6A2

Gene Name

collagen type VI alpha 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001849.3		Intron			NP_001840.3
NM_058174.2		Intron			NP_478054.2
NM_058175.2		Intron			NP_478055.2
XM_011529451.1		Intron			XP_011527753.1

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