Product Details
- SNP ID
-
rs34577759
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
6
- Location
-
Chr.1:1312617 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCTGCGCCATCTCCCGCTTCAGCA[G/A]CCCCAGCGAGATGCCTACGGGGATG
- Phenotype
-
MIM: 611354
- Polymorphism
- G/A, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ACAP3
PubMed Links
Gene Details
- Gene
- ACAP3
- Gene Name
- ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
There are no transcripts associated with this gene.
- Gene
- CPSF3L
- Gene Name
- cleavage and polyadenylation specific factor 3-like
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001256456.1 |
1612 |
Silent Mutation |
CTG,TTG |
L466L |
NP_001243385.1 |
| NM_001256460.1 |
1612 |
Silent Mutation |
CTG,TTG |
L431L |
NP_001243389.1 |
| NM_001256462.1 |
1612 |
Silent Mutation |
CTG,TTG |
L362L |
NP_001243391.1 |
| NM_001256463.1 |
1612 |
Silent Mutation |
CTG,TTG |
L359L |
NP_001243392.1 |
| NM_017871.5 |
1612 |
Silent Mutation |
CTG,TTG |
L460L |
NP_060341.2 |
| XM_011541647.1 |
1612 |
Silent Mutation |
CTG,TTG |
L520L |
XP_011539949.1 |
| XM_011541648.1 |
1612 |
Silent Mutation |
CTG,TTG |
L482L |
XP_011539950.1 |
| XM_011541650.1 |
1612 |
Silent Mutation |
CTG,TTG |
L336L |
XP_011539952.1 |
| XM_017001557.1 |
1612 |
Silent Mutation |
CTG,TTG |
L336L |
XP_016857046.1 |
| XM_017001558.1 |
1612 |
Silent Mutation |
CTG,TTG |
L336L |
XP_016857047.1 |
- Gene
- MIR6727
- Gene Name
- microRNA 6727
There are no transcripts associated with this gene.
- Gene
- PUSL1
- Gene Name
- pseudouridylate synthase-like 1
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