Product Details
- SNP ID
-
rs201272321
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:103501053 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAGAAAGAAGAGGAGAAGGAGCAGT[C/T]CGTGCTCAAGTAAGGACCTGGCTCC
- Phenotype
-
MIM: 606630
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
RIMS2
PubMed Links
Gene Details
- Gene
- RIMS2
- Gene Name
- regulating synaptic membrane exocytosis 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001100117.2 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
NP_001093587.1 |
NM_001282881.1 |
185 |
Intron |
|
|
NP_001269810.1 |
NM_001282882.1 |
185 |
Intron |
|
|
NP_001269811.1 |
NM_014677.4 |
185 |
Intron |
|
|
NP_055492.3 |
XM_005251106.3 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_005251163.1 |
XM_005251107.3 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_005251164.1 |
XM_006716698.3 |
185 |
Intron |
|
|
XP_006716761.1 |
XM_011517395.2 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_011515697.1 |
XM_011517398.2 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_011515700.1 |
XM_017014006.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869495.1 |
XM_017014007.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869496.1 |
XM_017014008.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869497.1 |
XM_017014009.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869498.1 |
XM_017014010.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869499.1 |
XM_017014011.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869500.1 |
XM_017014012.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869501.1 |
XM_017014013.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869502.1 |
XM_017014014.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869503.1 |
XM_017014015.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869504.1 |
XM_017014016.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869505.1 |
XM_017014017.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869506.1 |
XM_017014018.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869507.1 |
XM_017014019.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869508.1 |
XM_017014020.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869509.1 |
XM_017014021.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869510.1 |
XM_017014022.1 |
185 |
Intron |
|
|
XP_016869511.1 |
XM_017014023.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869512.1 |
XM_017014024.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869513.1 |
XM_017014025.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869514.1 |
XM_017014026.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869515.1 |
XM_017014027.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869516.1 |
XM_017014028.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869517.1 |
XM_017014029.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869518.1 |
XM_017014030.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869519.1 |
XM_017014031.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869520.1 |
XM_017014032.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869521.1 |
XM_017014033.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869522.1 |
XM_017014034.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869523.1 |
XM_017014035.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869524.1 |
XM_017014036.1 |
185 |
Intron |
|
|
XP_016869525.1 |
XM_017014037.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869526.1 |
XM_017014038.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869527.1 |
XM_017014039.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869528.1 |
XM_017014040.1 |
185 |
Intron |
|
|
XP_016869529.1 |
XM_017014041.1 |
185 |
Intron |
|
|
XP_016869530.1 |
XM_017014042.1 |
185 |
Missense Mutation |
TCC,TTC |
S56F |
XP_016869531.1 |
XM_017014043.1 |
185 |
Intron |
|
|
XP_016869532.1 |
XM_017014044.1 |
185 |
Intron |
|
|
XP_016869533.1 |
XM_017014045.1 |
185 |
Intron |
|
|
XP_016869534.1 |
XM_017014046.1 |
185 |
Intron |
|
|
XP_016869535.1 |
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