Product Details

SNP ID
rs7586
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.2:189033772 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
TTACACTGAAATAAATTGAAGAAAA[C/T]GGAGATTTATTTATTCAATCAGTTT
Phenotype
MIM: 120190
Polymorphism
C/T, 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 4855 UTR 3 NP_000384.2
XM_011510573.2 4855 UTR 3 XP_011508875.1

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