Product Details

SNP ID

rs4598327

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:134658390 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCTTTCCTTTTCTGGCTGCCCGG[A/G]TCTCCAGTTCTGCTGGGACAGCCCT

Phenotype

MIM: 120215

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COL5A1 PubMed Links

Gene Details

Gene

COL5A1

Gene Name

collagen type V alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000093.4		Intron			NP_000084.3
NM_001278074.1		Intron			NP_001265003.1
XM_017014266.1		Intron			XP_016869755.1

Gene

COL5A1-AS1

Gene Name

COL5A1 antisense RNA 1

There are no transcripts associated with this gene.

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