Product Details
- SNP ID
-
rs138174628
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:30025300 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GAGGGGCCAGGAGCAGCGCAGCGCC[C/T]AGGTTGACGTGGGCAGGGATGGCCA
- Phenotype
-
MIM: 604567
MIM: 615175
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
C16orf92
PubMed Links
Gene Details
- Gene
- C16orf92
- Gene Name
- chromosome 16 open reading frame 92
- Gene
- DOC2A
- Gene Name
- double C2 domain alpha
There are no transcripts associated with this gene.
- Gene
- FAM57B
- Gene Name
- family with sequence similarity 57 member B
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001318504.1 |
1347 |
Silent Mutation |
CTA,CTG |
L186L |
NP_001305433.1 |
| NM_031478.5 |
1347 |
Silent Mutation |
CTA,CTG |
L236L |
NP_113666.2 |
| XM_005255613.3 |
1347 |
Silent Mutation |
CTA,CTG |
L236L |
XP_005255670.1 |
| XM_005255614.3 |
1347 |
Silent Mutation |
CTA,CTG |
L236L |
XP_005255671.1 |
| XM_005255615.2 |
1347 |
Silent Mutation |
CTA,CTG |
L236L |
XP_005255672.1 |
| XM_017023749.1 |
1347 |
Silent Mutation |
CTA,CTG |
L322L |
XP_016879238.1 |
| XM_017023750.1 |
1347 |
Silent Mutation |
CTA,CTG |
L236L |
XP_016879239.1 |
| XM_017023751.1 |
1347 |
Silent Mutation |
CTA,CTG |
L236L |
XP_016879240.1 |
| XM_017023752.1 |
1347 |
Silent Mutation |
CTA,CTG |
L236L |
XP_016879241.1 |
| XM_017023753.1 |
1347 |
Silent Mutation |
CTA,CTG |
L186L |
XP_016879242.1 |
| XM_017023754.1 |
1347 |
Silent Mutation |
CTA,CTG |
L186L |
XP_016879243.1 |
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