Product Details
- SNP ID
-
rs149266909
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.21:46137006 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCACCGTCACTCCTGCCGGGTCTCC[A/T]AGCAGTCCAGCACCAGTGCAGCCTG
- 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 |
2674 |
Silent Mutation |
CTA,CTT |
L529L |
NP_001307341.1 |
NM_006657.2 |
2674 |
Nonsense Mutation |
TAG,TTG |
*536L |
NP_006648.1 |
NM_206965.1 |
2674 |
Nonsense Mutation |
TAG,TTG |
*536L |
NP_996848.1 |
XM_006723961.3 |
2674 |
Nonsense Mutation |
TAG,TTG |
*619L |
XP_006724024.2 |
XM_006723962.3 |
2674 |
Silent Mutation |
CTA,CTT |
L612L |
XP_006724025.2 |
XM_011529434.2 |
2674 |
Silent Mutation |
CTA,CTT |
L612L |
XP_011527736.1 |
XM_011529435.2 |
2674 |
Silent Mutation |
CTA,CTT |
L569L |
XP_011527737.1 |
XM_011529436.2 |
2674 |
Silent Mutation |
CTA,CTT |
L612L |
XP_011527738.1 |
XM_011529437.2 |
2674 |
Nonsense Mutation |
TAG,TTG |
*619L |
XP_011527739.1 |
XM_011529439.2 |
2674 |
Silent Mutation |
CTA,CTT |
L441L |
XP_011527741.1 |
XM_011529440.2 |
2674 |
Intron |
|
|
XP_011527742.1 |
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