Product Details

SNP ID

rs1913235

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:99647987 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGCACAGTTGAGCACCCTCTGCTTT[A/C]AGAAAATAAGTAGCTCATAGTCATC

Phenotype

MIM: 120251

Polymorphism

A/C, Transversion 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

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