Product Details
- SNP ID
-
rs202152104
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:101731656 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTGTTGAAGAATCTTTTGTTGCTGT[C/T]GAAACATATTCTACAAATATAAAAG
- Phenotype
-
MIM: 616747
MIM: 604759
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
CHPT1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs145003954] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- CHPT1
- Gene Name
- choline phosphotransferase 1
- Gene
- SYCP3
- Gene Name
- synaptonemal complex protein 3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001177948.1 |
599 |
Missense Mutation |
CAA,CGA |
Q155R |
NP_001171419.1 |
NM_001177949.1 |
599 |
Missense Mutation |
CAA,CGA |
Q155R |
NP_001171420.1 |
NM_153694.4 |
599 |
Missense Mutation |
CAA,CGA |
Q155R |
NP_710161.1 |
XM_005268922.4 |
599 |
Missense Mutation |
CAA,CGA |
Q235R |
XP_005268979.3 |
XM_005268924.1 |
599 |
Missense Mutation |
CAA,CGA |
Q155R |
XP_005268981.1 |
XM_005268925.1 |
599 |
Missense Mutation |
CAA,CGA |
Q155R |
XP_005268982.1 |
XM_005268926.3 |
599 |
Missense Mutation |
CAA,CGA |
Q155R |
XP_005268983.1 |
XM_005268927.2 |
599 |
Missense Mutation |
CAA,CGA |
Q155R |
XP_005268984.1 |
XM_011538421.2 |
599 |
Missense Mutation |
CAA,CGA |
Q209R |
XP_011536723.2 |
XM_017019368.1 |
599 |
Missense Mutation |
CAA,CGA |
Q235R |
XP_016874857.1 |
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