Product Details
- SNP ID
-
rs111850803
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:729011 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACCGGGGCCTGTGGTCACTCCAGAA[A/G]AGGGATGAGGATGACGTGCCCACTG
- Phenotype
-
MIM: 614666
MIM: 610998
MIM: 611118
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CCDC78
PubMed Links
Gene Details
- Gene
- CCDC78
- Gene Name
- coiled-coil domain containing 78
There are no transcripts associated with this gene.
- Gene
- FAM173A
- Gene Name
- family with sequence similarity 173 member A
There are no transcripts associated with this gene.
- Gene
- HAGHL
- Gene Name
- hydroxyacylglutathione hydrolase-like
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001290137.1 |
1098 |
Silent Mutation |
AAA,AAG |
K201K |
NP_001277066.1 |
| NM_001290139.1 |
1098 |
Silent Mutation |
AAA,AAG |
K201K |
NP_001277068.1 |
| NM_001323635.1 |
1098 |
Silent Mutation |
AAA,AAG |
K201K |
NP_001310564.1 |
| NM_001323636.1 |
1098 |
Intron |
|
|
NP_001310565.1 |
| NM_032304.3 |
1098 |
Silent Mutation |
AAA,AAG |
K201K |
NP_115680.1 |
| XM_005255631.4 |
1098 |
Missense Mutation |
AAA,AGA |
K239R |
XP_005255688.1 |
| XM_005255632.1 |
1098 |
Silent Mutation |
AAA,AAG |
K192K |
XP_005255689.1 |
| XM_011522711.1 |
1098 |
Missense Mutation |
AAA,AGA |
K239R |
XP_011521013.1 |
| XM_011522712.1 |
1098 |
Silent Mutation |
AAA,AAG |
K200K |
XP_011521014.1 |
| XM_017023773.1 |
1098 |
Missense Mutation |
AAA,AGA |
K239R |
XP_016879262.1 |
| XM_017023774.1 |
1098 |
Silent Mutation |
AAA,AAG |
K201K |
XP_016879263.1 |
- Gene
- METRN
- Gene Name
- meteorin, glial cell differentiation regulator
There are no transcripts associated with this gene.
- Gene
- NARFL
- Gene Name
- nuclear prelamin A recognition factor like
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