Product Details
- SNP ID
-
rs145775949
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:107571193 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GAAAATATAGTTGTGATCTGTGTTA[A/C]ACACCAATGATTGTTGCCGCTGATT
- Phenotype
-
MIM: 606821
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
BCAP29
PubMed Links
Gene Details
- Gene
- BCAP29
- Gene Name
- B-cell receptor-associated protein 29
There are no transcripts associated with this gene.
- Gene
- COG5
- Gene Name
- component of oligomeric golgi complex 5
There are no transcripts associated with this gene.
- Gene
- DUS4L
- Gene Name
- dihydrouridine synthase 4 like
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001270419.1 |
272 |
Nonsense Mutation |
TAA,TAC |
*55Y |
NP_001257348.1 |
| NM_181581.2 |
272 |
Nonsense Mutation |
TAA,TAC |
*55Y |
NP_853559.1 |
| XM_005250125.4 |
272 |
Nonsense Mutation |
TAA,TAC |
*55Y |
XP_005250182.1 |
| XM_006715844.2 |
272 |
Intron |
|
|
XP_006715907.1 |
| XM_006715845.3 |
272 |
Intron |
|
|
XP_006715908.1 |
| XM_011515766.2 |
272 |
Nonsense Mutation |
TAA,TAC |
*55Y |
XP_011514068.1 |
| XM_011515767.2 |
272 |
Nonsense Mutation |
TAA,TAC |
*55Y |
XP_011514069.1 |
| XM_017011708.1 |
272 |
Nonsense Mutation |
TAA,TAC |
*55Y |
XP_016867197.1 |
| XM_017011709.1 |
272 |
Nonsense Mutation |
TAA,TAC |
*51Y |
XP_016867198.1 |
| XM_017011710.1 |
272 |
Nonsense Mutation |
TAA,TAC |
*51Y |
XP_016867199.1 |
| XM_017011711.1 |
272 |
Nonsense Mutation |
TAA,TAC |
*51Y |
XP_016867200.1 |
| XM_017011712.1 |
272 |
Nonsense Mutation |
TAA,TAC |
*51Y |
XP_016867201.1 |
| XM_017011713.1 |
272 |
Nonsense Mutation |
TAA,TAC |
*51Y |
XP_016867202.1 |
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