Product Details
- SNP ID
-
rs16832629
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
14
- Location
-
Chr.1:45620916 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- CACCACACTCACCTGAGGAATCCCA[C/T]TCAGCTGCCCAAGGCTAAGGCTGGG
- Phenotype
-
MIM: 603185
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CCDC17
PubMed Links
Gene Details
- Gene
- CCDC17
- Gene Name
- coiled-coil domain containing 17
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001114938.2 |
2563 |
Missense Mutation |
AAT,AGT |
N529S |
NP_001108410.2 |
| NM_001190182.1 |
2563 |
Missense Mutation |
AAT,AGT |
N520S |
NP_001177111.1 |
| XM_011540812.1 |
2563 |
Missense Mutation |
AAT,AGT |
N562S |
XP_011539114.1 |
| XM_011540814.1 |
2563 |
Missense Mutation |
AAT,AGT |
N562S |
XP_011539116.1 |
| XM_011540820.1 |
2563 |
Intron |
|
|
XP_011539122.1 |
| XM_017000450.1 |
2563 |
Missense Mutation |
AAT,AGT |
N553S |
XP_016855939.1 |
| XM_017000451.1 |
2563 |
Missense Mutation |
AAT,AGT |
N530S |
XP_016855940.1 |
| XM_017000452.1 |
2563 |
Missense Mutation |
AAT,AGT |
N529S |
XP_016855941.1 |
| XM_017000453.1 |
2563 |
Missense Mutation |
AAT,AGT |
N526S |
XP_016855942.1 |
| XM_017000454.1 |
2563 |
Missense Mutation |
AAT,AGT |
N497S |
XP_016855943.1 |
| XM_017000455.1 |
2563 |
Missense Mutation |
AAT,AGT |
N350S |
XP_016855944.1 |
| XM_017000456.1 |
2563 |
Missense Mutation |
AAT,AGT |
N350S |
XP_016855945.1 |
| XM_017000457.1 |
2563 |
Intron |
|
|
XP_016855946.1 |
| XM_017000458.1 |
2563 |
Intron |
|
|
XP_016855947.1 |
- Gene
- GPBP1L1
- Gene Name
- GC-rich promoter binding protein 1 like 1
There are no transcripts associated with this gene.
- Gene
- NASP
- Gene Name
- nuclear autoantigenic sperm protein
There are no transcripts associated with this gene.
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