Product Details
- SNP ID
-
rs147382390
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:99448134 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCTTGCCGGCAGGGGGCATGTGTCC[A/G]TTTCGCCACATCAGTGGTGAGAAGA
- Phenotype
-
MIM: 603052
MIM: 614774
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ATP5J2-PTCD1
PubMed Links
Gene Details
- Gene
- ATP5J2-PTCD1
- Gene Name
- ATP5J2-PTCD1 readthrough
- Gene
- CPSF4
- Gene Name
- cleavage and polyadenylation specific factor 4
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001081559.2 |
286 |
Silent Mutation |
CCA,CCG |
P56P |
NP_001075028.1 |
NM_001318160.1 |
286 |
Silent Mutation |
CCA,CCG |
P56P |
NP_001305089.1 |
NM_001318161.1 |
286 |
Silent Mutation |
CCA,CCG |
P56P |
NP_001305090.1 |
NM_001318162.1 |
286 |
Silent Mutation |
CCA,CCG |
P3P |
NP_001305091.1 |
NM_006693.3 |
286 |
Silent Mutation |
CCA,CCG |
P56P |
NP_006684.1 |
XM_011515755.2 |
286 |
Silent Mutation |
CCA,CCG |
P56P |
XP_011514057.1 |
XM_011515756.2 |
286 |
Silent Mutation |
CCA,CCG |
P56P |
XP_011514058.1 |
XM_011515757.2 |
286 |
Silent Mutation |
CCA,CCG |
P56P |
XP_011514059.1 |
XM_017011700.1 |
286 |
Silent Mutation |
CCA,CCG |
P56P |
XP_016867189.1 |
XM_017011701.1 |
286 |
Silent Mutation |
CCA,CCG |
P56P |
XP_016867190.1 |
XM_017011702.1 |
286 |
Silent Mutation |
CCA,CCG |
P3P |
XP_016867191.1 |
XM_017011703.1 |
286 |
Silent Mutation |
CCA,CCG |
P3P |
XP_016867192.1 |
- Gene
- PTCD1
- Gene Name
- pentatricopeptide repeat domain 1
There are no transcripts associated with this gene.
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