Product Details

SNP ID
rs141809828
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:9960551 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGAAAAGGGTCTTCGTCTGTCCTT[C/T]CCGGAGCTGTCCCCAGAGAAGACAG
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 2885 Missense Mutation AAA,GAA K1700E NP_056534.2
XM_011528042.2 2885 Missense Mutation AAA,GAA K1699E XP_011526344.1
XM_017026849.1 2885 Missense Mutation AAA,GAA K921E XP_016882338.1

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