Product Details
- SNP ID
-
rs141616242
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.21:46138887 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCGGCCCTCCAGGCTCACCTGTCCT[A/T]TTCCTCAGGTGTGTTCTTGGGGAGC
- Phenotype
-
MIM: 120240
MIM: 606806
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
COL6A2
PubMed Links
Gene Details
- Gene
- COL6A2
- Gene Name
- collagen type VI alpha 2
There are no transcripts associated with this gene.
- Gene
- FTCD
- Gene Name
- formimidoyltransferase cyclodeaminase
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001320412.1 |
2384 |
Nonsense Mutation |
AAG,TAG |
K433* |
NP_001307341.1 |
| NM_006657.2 |
2384 |
Nonsense Mutation |
AAG,TAG |
K433* |
NP_006648.1 |
| NM_206965.1 |
2384 |
Nonsense Mutation |
AAG,TAG |
K433* |
NP_996848.1 |
| XM_006723961.3 |
2384 |
Nonsense Mutation |
AAG,TAG |
K516* |
XP_006724024.2 |
| XM_006723962.3 |
2384 |
Nonsense Mutation |
AAG,TAG |
K516* |
XP_006724025.2 |
| XM_011529434.2 |
2384 |
Nonsense Mutation |
AAG,TAG |
K516* |
XP_011527736.1 |
| XM_011529435.2 |
2384 |
Nonsense Mutation |
AAG,TAG |
K473* |
XP_011527737.1 |
| XM_011529436.2 |
2384 |
Nonsense Mutation |
AAG,TAG |
K516* |
XP_011527738.1 |
| XM_011529437.2 |
2384 |
Nonsense Mutation |
AAG,TAG |
K516* |
XP_011527739.1 |
| XM_011529439.2 |
2384 |
Nonsense Mutation |
AAG,TAG |
K345* |
XP_011527741.1 |
| XM_011529440.2 |
2384 |
Intron |
|
|
XP_011527742.1 |
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