Product Details
- SNP ID
-
rs113011483
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:101733628 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTCTGCATATCTAAATCCCACTGCT[A/G]AAACAAAGTCAGAAACTGCTGAGAA
- Phenotype
-
MIM: 616747
MIM: 604759
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CHPT1
PubMed Links
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 |
535 |
Nonsense Mutation |
CAG,TAG |
Q134* |
NP_001171419.1 |
NM_001177949.1 |
535 |
Nonsense Mutation |
CAG,TAG |
Q134* |
NP_001171420.1 |
NM_153694.4 |
535 |
Nonsense Mutation |
CAG,TAG |
Q134* |
NP_710161.1 |
XM_005268922.4 |
535 |
Nonsense Mutation |
CAG,TAG |
Q214* |
XP_005268979.3 |
XM_005268924.1 |
535 |
Nonsense Mutation |
CAG,TAG |
Q134* |
XP_005268981.1 |
XM_005268925.1 |
535 |
Nonsense Mutation |
CAG,TAG |
Q134* |
XP_005268982.1 |
XM_005268926.3 |
535 |
Nonsense Mutation |
CAG,TAG |
Q134* |
XP_005268983.1 |
XM_005268927.2 |
535 |
Nonsense Mutation |
CAG,TAG |
Q134* |
XP_005268984.1 |
XM_011538421.2 |
535 |
Nonsense Mutation |
CAG,TAG |
Q188* |
XP_011536723.2 |
XM_017019368.1 |
535 |
Nonsense Mutation |
CAG,TAG |
Q214* |
XP_016874857.1 |
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