Product Details

SNP ID

rs4819201

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.21:46106805 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CCAAAACCAAAACTGTAATTTTATC[A/G]TTTCATTTGATAGCACAAGCTTTCT

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

View Full Product Details