Product Details
- SNP ID
-
rs199547144
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:74491146 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATTGCAGCGTCAAAAGGAACGGAAG[C/T]GACAGGAGCGTTTGGAGCAGTACTG
- Phenotype
-
MIM: 607164
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CCDC142
PubMed Links
Gene Details
- Gene
- CCDC142
- Gene Name
- coiled-coil domain containing 142
There are no transcripts associated with this gene.
- Gene
- LBX2
- Gene Name
- ladybird homeobox 2
There are no transcripts associated with this gene.
- Gene
- TTC31
- Gene Name
- tetratricopeptide repeat domain 31
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_022492.4 |
526 |
Nonsense Mutation |
CGA,TGA |
R189* |
NP_071937.4 |
| XM_005264492.1 |
526 |
Nonsense Mutation |
CGA,TGA |
R189* |
XP_005264549.1 |
| XM_011533035.1 |
526 |
Nonsense Mutation |
CGA,TGA |
R189* |
XP_011531337.1 |
| XM_011533036.1 |
526 |
Nonsense Mutation |
CGA,TGA |
R189* |
XP_011531338.1 |
| XM_011533037.1 |
526 |
Nonsense Mutation |
CGA,TGA |
R189* |
XP_011531339.1 |
| XM_011533040.1 |
526 |
Nonsense Mutation |
CGA,TGA |
R45* |
XP_011531342.1 |
| XM_017004706.1 |
526 |
Nonsense Mutation |
CGA,TGA |
R189* |
XP_016860195.1 |
| XM_017004707.1 |
526 |
Nonsense Mutation |
CGA,TGA |
R189* |
XP_016860196.1 |
| XM_017004708.1 |
526 |
Nonsense Mutation |
CGA,TGA |
R45* |
XP_016860197.1 |
| XM_017004709.1 |
526 |
Nonsense Mutation |
CGA,TGA |
R45* |
XP_016860198.1 |
View Full Product Details