Product Details

SNP ID

rs193292823

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:99644149 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTTTAATAGCATTGTCCAAAACC[A/G]GACCCTCTCAAATGCTTGAGAGATG

Phenotype

MIM: 120251

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COL8A1 PubMed Links

Gene Details

Gene

COL8A1

Gene Name

collagen type VIII alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001850.4		Intron			NP_001841.2
NM_020351.3		Intron			NP_065084.2

Gene

LOC105374008

Gene Name

uncharacterized LOC105374008

There are no transcripts associated with this gene.

View Full Product Details