Product Details
- SNP ID
-
rs200314809
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:13933345 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTGCAGCCGAGCCGCCTCCACCTGC[C/T]GGATGCGGTTGCGGCCCAGGTGCAG
- Phenotype
-
MIM: 610055
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CC2D1A
PubMed Links
Gene Details
- Gene
- CC2D1A
- Gene Name
- coiled-coil and C2 domain containing 1A
There are no transcripts associated with this gene.
- Gene
- PODNL1
- Gene Name
- podocan like 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001146254.1 |
1007 |
Missense Mutation |
CAG,CGG |
Q298R |
NP_001139726.1 |
NM_001146255.1 |
1007 |
Missense Mutation |
CAG,CGG |
Q209R |
NP_001139727.1 |
NM_024825.3 |
1007 |
Missense Mutation |
CAG,CGG |
Q300R |
NP_079101.3 |
XM_006722901.1 |
1007 |
Missense Mutation |
CAG,CGG |
Q300R |
XP_006722964.1 |
XM_006722902.1 |
1007 |
Missense Mutation |
CAG,CGG |
Q255R |
XP_006722965.1 |
XM_006722903.1 |
1007 |
Missense Mutation |
CAG,CGG |
Q211R |
XP_006722966.1 |
XM_011528308.1 |
1007 |
Missense Mutation |
CAG,CGG |
Q298R |
XP_011526610.1 |
XM_011528309.2 |
1007 |
Missense Mutation |
CAG,CGG |
Q282R |
XP_011526611.1 |
XM_011528310.2 |
1007 |
Missense Mutation |
CAG,CGG |
Q270R |
XP_011526612.1 |
XM_011528311.1 |
1007 |
Missense Mutation |
CAG,CGG |
Q267R |
XP_011526613.1 |
XM_011528313.1 |
1007 |
Missense Mutation |
CAG,CGG |
Q218R |
XP_011526615.1 |
XM_011528314.1 |
1007 |
Missense Mutation |
CAG,CGG |
Q203R |
XP_011526616.1 |
XM_011528316.1 |
1007 |
Missense Mutation |
CAG,CGG |
Q129R |
XP_011526618.1 |
XM_017027313.1 |
1007 |
Missense Mutation |
CAG,CGG |
Q203R |
XP_016882802.1 |
View Full Product Details