Product Details

SNP ID

rs75096234

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:189032166 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGATGTTGTAAACTAAATATTGA[A/G]AATGAAACTGAAAACAATTAGGCTA

Phenotype

MIM: 120190

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COL5A2 PubMed Links

Gene Details

Gene

COL5A2

Gene Name

collagen type V alpha 2 chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000393.3	6679	UTR 3			NP_000384.2
XM_011510573.2	6679	Intron			XP_011508875.1

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