Product Details

SNP ID

rs9975096

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:45407691 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCACGCCAGGAGCCTGGTCTCATG[A/C]GTCTCCTTGTCTCTGAGCCTCTCCT

Phenotype

MIM: 120328

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

COL18A1 PubMed Links

Gene Details

Gene

COL18A1

Gene Name

collagen type XVIII alpha 1 chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030582.3		Intron			NP_085059.2
NM_130444.2		Intron			NP_569711.2
NM_130445.3		Intron			NP_569712.2

Gene

COL18A1-AS2

Gene Name

COL18A1 antisense RNA 2

There are no transcripts associated with this gene.

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