Product Details
- SNP ID
-
rs138899581
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.21:45984391 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGCCGCGACGCACTCAAAAGCAGCG[C/T]GGACGCGGTCAAGTACTTTGGGAAG
- Phenotype
-
MIM: 120220
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
COL6A1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs11553519] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- COL6A1
- Gene Name
- collagen type VI alpha 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001848.2 |
452 |
Missense Mutation |
GCG,GTG |
A117V |
NP_001839.2 |
- Gene
- LOC101928796
- Gene Name
- uncharacterized LOC101928796
There are no transcripts associated with this gene.
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