Product Details

SNP ID

rs144662581

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:9960507 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACATCCCACAGGGGCAGAAATCC[C/T]GCTCGAGAAGAGCTGAATTCGAAAA

Phenotype

MIM: 120216

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COL5A3 PubMed Links

Gene Details

Gene

COL5A3

Gene Name

collagen type V alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015719.3	2929	Silent Mutation	GCA,GCG	A1714A	NP_056534.2
XM_011528042.2	2929	Silent Mutation	GCA,GCG	A1713A	XP_011526344.1
XM_017026849.1	2929	Silent Mutation	GCA,GCG	A935A	XP_016882338.1

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