Product Details
- SNP ID
-
rs202138697
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:178242075 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACGGCTGGTCCAGGCCTGGTGGTCC[C/T]GGCTCGCCCTTCTGGCCCTTCACTC
- Phenotype
-
MIM: 610043
MIM: 614683
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
COL23A1
PubMed Links
Gene Details
- Gene
- COL23A1
- Gene Name
- collagen type XXIII alpha 1 chain
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_173465.3 |
2661 |
Silent Mutation |
CCA,CCG |
P516P |
NP_775736.2 |
| XM_006714933.3 |
2661 |
Silent Mutation |
CCA,CCG |
P516P |
XP_006714996.1 |
| XM_006714934.3 |
2661 |
Silent Mutation |
CCA,CCG |
P507P |
XP_006714997.1 |
| XM_006714935.3 |
2661 |
Silent Mutation |
CCA,CCG |
P504P |
XP_006714998.1 |
| XM_006714936.3 |
2661 |
Silent Mutation |
CCA,CCG |
P495P |
XP_006714999.1 |
| XM_011534688.2 |
2661 |
Silent Mutation |
CCA,CCG |
P507P |
XP_011532990.1 |
| XM_011534689.2 |
2661 |
Silent Mutation |
CCA,CCG |
P498P |
XP_011532991.1 |
| XM_011534690.2 |
2661 |
Silent Mutation |
CCA,CCG |
P498P |
XP_011532992.1 |
| XM_011534691.2 |
2661 |
Silent Mutation |
CCA,CCG |
P480P |
XP_011532993.1 |
| XM_011534692.2 |
2661 |
Silent Mutation |
CCA,CCG |
P422P |
XP_011532994.1 |
| XM_017010018.1 |
2661 |
Intron |
|
|
XP_016865507.1 |
- Gene
- PHYKPL
- Gene Name
- 5-phosphohydroxy-L-lysine phospho-lyase
There are no transcripts associated with this gene.
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