Product Details
- SNP ID
-
rs148643272
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
2
- Location
-
Chr.1:224231295 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AATGCTTATGACTAACCTTGAGTTC[A/T]CCTATGGAGTAAATGCACAAATATA
- Phenotype
-
MIM: 602426
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
LOC101927164
PubMed Links
Gene Details
- Gene
- LOC101927164
- Gene Name
- uncharacterized LOC101927164
There are no transcripts associated with this gene.
- Gene
- NVL
- Gene Name
- nuclear VCP-like
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001243146.1 |
2519 |
Silent Mutation |
GGA,GGT |
G630G |
NP_001230075.1 |
| NM_001243147.1 |
2519 |
Silent Mutation |
GGA,GGT |
G728G |
NP_001230076.1 |
| NM_002533.3 |
2519 |
Silent Mutation |
GGA,GGT |
G819G |
NP_002524.2 |
| NM_206840.2 |
2519 |
Silent Mutation |
GGA,GGT |
G713G |
NP_996671.1 |
| XM_011544196.1 |
2519 |
Silent Mutation |
GGA,GGT |
G846G |
XP_011542498.1 |
| XM_011544198.1 |
2519 |
Silent Mutation |
GGA,GGT |
G740G |
XP_011542500.1 |
| XM_011544199.1 |
2519 |
Silent Mutation |
GGA,GGT |
G728G |
XP_011542501.1 |
| XM_011544200.1 |
2519 |
Silent Mutation |
GGA,GGT |
G728G |
XP_011542502.1 |
| XM_017001378.1 |
2519 |
Silent Mutation |
GGA,GGT |
G880G |
XP_016856867.1 |
| XM_017001379.1 |
2519 |
Silent Mutation |
GGA,GGT |
G853G |
XP_016856868.1 |
| XM_017001380.1 |
2519 |
Intron |
|
|
XP_016856869.1 |
| XM_017001381.1 |
2519 |
Silent Mutation |
GGA,GGT |
G802G |
XP_016856870.1 |
| XM_017001382.1 |
2519 |
Silent Mutation |
GGA,GGT |
G802G |
XP_016856871.1 |
| XM_017001383.1 |
2519 |
Silent Mutation |
GGA,GGT |
G775G |
XP_016856872.1 |
| XM_017001384.1 |
2519 |
Intron |
|
|
XP_016856873.1 |
| XM_017001385.1 |
2519 |
Intron |
|
|
XP_016856874.1 |
| XM_017001386.1 |
2519 |
Silent Mutation |
GGA,GGT |
G701G |
XP_016856875.1 |
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