Product Details
- SNP ID
-
rs147479014
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
5
- Location
-
Chr.1:31652663 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAGGTGGGGAATTTCAGCCAAAAGG[C/G]CCCTTCATGGTTTTCATGGGTGGGT
- Phenotype
-
MIM: 120326
MIM: 610033
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
COL16A1
PubMed Links
Gene Details
- Gene
- COL16A1
- Gene Name
- collagen type XVI alpha 1 chain
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001856.3 |
3406 |
Silent Mutation |
GGC,GGG |
G1601G |
NP_001847.3 |
| XM_005270481.1 |
3406 |
Silent Mutation |
GGC,GGG |
G1585G |
XP_005270538.1 |
| XM_011540722.1 |
3406 |
Silent Mutation |
GGC,GGG |
G1586G |
XP_011539024.1 |
| XM_011540723.1 |
3406 |
Silent Mutation |
GGC,GGG |
G1570G |
XP_011539025.1 |
| XM_011540724.1 |
3406 |
Silent Mutation |
GGC,GGG |
G1560G |
XP_011539026.1 |
| XM_011540726.2 |
3406 |
Silent Mutation |
GGC,GGG |
G1399G |
XP_011539028.1 |
| XM_011540727.2 |
3406 |
Silent Mutation |
GGC,GGG |
G1299G |
XP_011539029.1 |
| XM_011540728.2 |
3406 |
Silent Mutation |
GGC,GGG |
G1086G |
XP_011539030.1 |
| XM_011540729.1 |
3406 |
Intron |
|
|
XP_011539031.1 |
| XM_011540730.1 |
3406 |
Intron |
|
|
XP_011539032.1 |
| XM_017000338.1 |
3406 |
Silent Mutation |
GGC,GGG |
G1590G |
XP_016855827.1 |
| XM_017000339.1 |
3406 |
Silent Mutation |
GGC,GGG |
G1589G |
XP_016855828.1 |
| XM_017000340.1 |
3406 |
Silent Mutation |
GGC,GGG |
G1074G |
XP_016855829.1 |
| XM_017000341.1 |
3406 |
Silent Mutation |
GGC,GGG |
G1025G |
XP_016855830.1 |
- Gene
- PEF1
- Gene Name
- penta-EF-hand domain containing 1
There are no transcripts associated with this gene.
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