Product Details

SNP ID
rs141946790
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:9960757 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGGCGGAGTGGCTGTAGTCACCC[A/G]TGGCTTCGTCCAGCCAGGCAGCTGC
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 2772 Missense Mutation ACG,ATG T1662M NP_056534.2
XM_011528042.2 2772 Missense Mutation ACG,ATG T1661M XP_011526344.1
XM_017026849.1 2772 Missense Mutation ACG,ATG T883M XP_016882338.1

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