Product Details

SNP ID

rs9978055

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:46099112 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGCTCCTTGTTCTTGGGATAACACA[G/T]CTCTGGCTTGGAGGCCCCCTTGCAC

Phenotype

MIM: 120240

Polymorphism

G/T, Transversion 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	311	Intron			NP_001840.3
NM_058174.2	311	Intron			NP_478054.2
NM_058175.2	311	Intron			NP_478055.2
XM_011529451.1	311	UTR 5			XP_011527753.1

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