Product Details
- SNP ID
-
rs139486282
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:75266920 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CATCCATGCGCTGCCCATTCATTTT[C/T]TCCAGCTGCTCCCCAACCCGGTGCA
- Phenotype
-
MIM: 606006
MIM: 612072
MIM: 611974
MIM: 606521
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GGA3
PubMed Links
Gene Details
- Gene
- GGA3
- Gene Name
- golgi associated, gamma adaptin ear containing, ARF binding protein 3
There are no transcripts associated with this gene.
- Gene
- LOC100287042
- Gene Name
- uncharacterized LOC100287042
There are no transcripts associated with this gene.
- Gene
- MIF4GD
- Gene Name
- MIF4G domain containing
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001242498.1 |
1319 |
Silent Mutation |
GAA,GAG |
E204E |
NP_001229427.1 |
| NM_001242500.1 |
1319 |
Silent Mutation |
GAA,GAG |
E197E |
NP_001229429.1 |
| NM_001242501.1 |
1319 |
Silent Mutation |
GAA,GAG |
E163E |
NP_001229430.1 |
| NM_020679.3 |
1319 |
Silent Mutation |
GAA,GAG |
E197E |
NP_065730.2 |
| XM_005257530.1 |
1319 |
Silent Mutation |
GAA,GAG |
E204E |
XP_005257587.1 |
| XM_005257532.4 |
1319 |
Silent Mutation |
GAA,GAG |
E163E |
XP_005257589.1 |
| XM_005257533.1 |
1319 |
Silent Mutation |
GAA,GAG |
E163E |
XP_005257590.1 |
| XM_011525051.2 |
1319 |
Silent Mutation |
GAA,GAG |
E272E |
XP_011523353.1 |
| XM_011525052.2 |
1319 |
Silent Mutation |
GAA,GAG |
E265E |
XP_011523354.1 |
| XM_011525053.2 |
1319 |
Silent Mutation |
GAA,GAG |
E231E |
XP_011523355.1 |
| XM_011525054.2 |
1319 |
Silent Mutation |
GAA,GAG |
E220E |
XP_011523356.1 |
| XM_011525055.2 |
1319 |
Silent Mutation |
GAA,GAG |
E179E |
XP_011523357.1 |
| XM_011525057.2 |
1319 |
Silent Mutation |
GAA,GAG |
E111E |
XP_011523359.1 |
| XM_017024888.1 |
1319 |
UTR 3 |
|
|
XP_016880377.1 |
| XM_017024889.1 |
1319 |
UTR 3 |
|
|
XP_016880378.1 |
| XM_017024890.1 |
1319 |
UTR 3 |
|
|
XP_016880379.1 |
| XM_017024891.1 |
1319 |
UTR 3 |
|
|
XP_016880380.1 |
| XM_017024892.1 |
1319 |
Intron |
|
|
XP_016880381.1 |
| XM_017024893.1 |
1319 |
Silent Mutation |
GAA,GAG |
E163E |
XP_016880382.1 |
| XM_017024894.1 |
1319 |
Silent Mutation |
GAA,GAG |
E163E |
XP_016880383.1 |
| XM_017024895.1 |
1319 |
Silent Mutation |
GAA,GAG |
E145E |
XP_016880384.1 |
- Gene
- MRPS7
- Gene Name
- mitochondrial ribosomal protein S7
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_015971.3 |
1319 |
Intron |
|
|
NP_057055.2 |
- Gene
- SLC25A19
- Gene Name
- solute carrier family 25 member 19
There are no transcripts associated with this gene.
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