Product Details

SNP ID

rs144903720

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:9960738 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCATTGGTGCCAAGGAAGCGGGC[A/G]GAGTGGCTGTAGTCACCCGTGGCTT

Phenotype

MIM: 120216

Polymorphism

A/G, 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	2791	Silent Mutation			NP_056534.2
XM_011528042.2	2791	Silent Mutation			XP_011526344.1
XM_017026849.1	2791	Silent Mutation			XP_016882338.1

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