Product Details

SNP ID
rs143597403
Assay Type
Functionally tested
NCBI dbSNP Submissions
21
Location
Chr.1:85734826 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTGGCCATTCCATCCCTTGAAAC[C/T]AATAGGCAATCCTGGGCCACTTGTT
Phenotype
MIM: 610025
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COL24A1 PubMed Links

Gene Details

Gene
COL24A1
Gene Name
collagen type XXIV alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152890.5 5279 Missense Mutation AGT,GGT S1641G NP_690850.2
XM_017000924.1 5279 Missense Mutation AGT,GGT S1656G XP_016856413.1
XM_017000925.1 5279 Missense Mutation AGT,GGT S1656G XP_016856414.1
XM_017000926.1 5279 Missense Mutation AGT,GGT S1643G XP_016856415.1
XM_017000927.1 5279 Missense Mutation AGT,GGT S1638G XP_016856416.1
XM_017000928.1 5279 Missense Mutation AGT,GGT S899G XP_016856417.1
XM_017000929.1 5279 Missense Mutation AGT,GGT S884G XP_016856418.1
XM_017000930.1 5279 Intron XP_016856419.1

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