Product Details
- SNP ID
-
rs140917603
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
11
- Location
-
Chr.1:228145551 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGCCTGTGGTGCTGAGCGGGCCTTC[A/G]GGAGCTGGGAAGAGCACCCTGCTGA
- Phenotype
-
MIM: 608803
MIM: 139270
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GJC2
PubMed Links
Gene Details
- Gene
- GJC2
- Gene Name
- gap junction protein gamma 2
There are no transcripts associated with this gene.
- Gene
- GUK1
- Gene Name
- guanylate kinase 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000858.5 |
177 |
Silent Mutation |
TCA,TCG |
S13S |
NP_000849.1 |
| NM_001159390.1 |
177 |
Silent Mutation |
TCA,TCG |
S34S |
NP_001152862.1 |
| NM_001159391.1 |
177 |
Silent Mutation |
TCA,TCG |
S13S |
NP_001152863.1 |
| NM_001242839.1 |
177 |
Silent Mutation |
TCA,TCG |
S13S |
NP_001229768.1 |
| NM_001242840.1 |
177 |
Silent Mutation |
TCA,TCG |
S34S |
NP_001229769.1 |
| XM_005273103.3 |
177 |
Silent Mutation |
TCA,TCG |
S79S |
XP_005273160.1 |
| XM_005273104.4 |
177 |
Silent Mutation |
TCA,TCG |
S79S |
XP_005273161.1 |
| XM_005273105.3 |
177 |
Silent Mutation |
TCA,TCG |
S13S |
XP_005273162.1 |
| XM_005273106.2 |
177 |
Silent Mutation |
TCA,TCG |
S13S |
XP_005273163.1 |
| XM_011544174.2 |
177 |
Silent Mutation |
TCA,TCG |
S13S |
XP_011542476.1 |
| XM_017001091.1 |
177 |
Missense Mutation |
AGG,GGG |
R38G |
XP_016856580.1 |
| XM_017001092.1 |
177 |
Missense Mutation |
AGG,GGG |
R38G |
XP_016856581.1 |
| XM_017001093.1 |
177 |
UTR 5 |
|
|
XP_016856582.1 |
| XM_017001094.1 |
177 |
UTR 5 |
|
|
XP_016856583.1 |
| XM_017001095.1 |
177 |
UTR 5 |
|
|
XP_016856584.1 |
| XM_017001096.1 |
177 |
UTR 5 |
|
|
XP_016856585.1 |
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