Product Details

SNP ID
rs201079421
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:130680657 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAATTATTTTCCTGTAGTAGGACA[C/T]AGATGGGGAACTAGTACTTCCTGCA
Phenotype
MIM: 616613 MIM: 602610
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
COL6A6 PubMed Links

Gene Details

Gene
COL6A6
Gene Name
collagen type VI alpha 6
There are no transcripts associated with this gene.

Gene
PIK3R4
Gene Name
phosphoinositide-3-kinase regulatory subunit 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014602.2 4443 Missense Mutation ATG,GTG M1288V NP_055417.1

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