Product Details
- SNP ID
-
rs190809517
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:85599087 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACCCTCCCCAGACCTTAGATCATAG[C/T]GATGCTCTCGGGGGCACAGTTGAGG
- Phenotype
-
MIM: 612490
MIM: 616757
MIM: 611594
MIM: 607029
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
C2orf68
PubMed Links
Gene Details
- Gene
- C2orf68
- Gene Name
- chromosome 2 open reading frame 68
There are no transcripts associated with this gene.
- Gene
- RNF181
- Gene Name
- ring finger protein 181
There are no transcripts associated with this gene.
- Gene
- TMEM150A
- Gene Name
- transmembrane protein 150A
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001031738.2 |
1669 |
Missense Mutation |
ACT,GCT |
T269A |
NP_001026908.1 |
XM_006711930.3 |
1669 |
Missense Mutation |
ACT,GCT |
T269A |
XP_006711993.1 |
XM_006711931.3 |
1669 |
Missense Mutation |
ACT,GCT |
T269A |
XP_006711994.1 |
XM_006711932.2 |
1669 |
Missense Mutation |
ACT,GCT |
T216A |
XP_006711995.1 |
XM_011532505.2 |
1669 |
Missense Mutation |
ACT,GCT |
T245A |
XP_011530807.1 |
XM_011532507.2 |
1669 |
Missense Mutation |
ACT,GCT |
T222A |
XP_011530809.1 |
XM_011532508.2 |
1669 |
Missense Mutation |
ACT,GCT |
T216A |
XP_011530810.1 |
XM_017003305.1 |
1669 |
Missense Mutation |
ACT,GCT |
T222A |
XP_016858794.1 |
XM_017003306.1 |
1669 |
Missense Mutation |
ACT,GCT |
T222A |
XP_016858795.1 |
XM_017003307.1 |
1669 |
Missense Mutation |
ACT,GCT |
T222A |
XP_016858796.1 |
- Gene
- USP39
- Gene Name
- ubiquitin specific peptidase 39
There are no transcripts associated with this gene.
- Gene
- VAMP5
- Gene Name
- vesicle associated membrane protein 5
There are no transcripts associated with this gene.
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