Product Details
- SNP ID
-
rs199644204
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:56057718 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGCAATTACACTAAAACATAGTGAT[C/G]GGTCGCAGATGCCTGGGGGGCCTGG
- Phenotype
-
MIM: 610002
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
COL21A1
PubMed Links
Gene Details
- Gene
- COL21A1
- Gene Name
- collagen type XXI alpha 1 chain
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001318751.1 |
3175 |
Missense Mutation |
CCA,CGA |
P938R |
NP_001305680.1 |
NM_001318752.1 |
3175 |
Missense Mutation |
CCA,CGA |
P935R |
NP_001305681.1 |
NM_001318753.1 |
3175 |
Missense Mutation |
CCA,CGA |
P336R |
NP_001305682.1 |
NM_001318754.1 |
3175 |
Missense Mutation |
CCA,CGA |
P295R |
NP_001305683.1 |
NM_030820.3 |
3175 |
Missense Mutation |
CCA,CGA |
P938R |
NP_110447.2 |
XM_006715223.1 |
3175 |
Missense Mutation |
CCA,CGA |
P926R |
XP_006715286.1 |
XM_011514924.2 |
3175 |
Missense Mutation |
CCA,CGA |
P938R |
XP_011513226.1 |
XM_011514925.2 |
3175 |
Missense Mutation |
CCA,CGA |
P938R |
XP_011513227.1 |
XM_011514926.1 |
3175 |
Missense Mutation |
CCA,CGA |
P938R |
XP_011513228.1 |
XM_011514927.1 |
3175 |
Missense Mutation |
CCA,CGA |
P938R |
XP_011513229.1 |
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