Product Details
- SNP ID
-
rs55911117
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:30429416 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGTGTTGCTCTGTAACGCATCTGCC[A/C]GCTGGGCAGTCCCCTTAGCTGTGAT
- Phenotype
-
MIM: 605980
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
NOD1
PubMed Links
Gene Details
- Gene
- NOD1
- Gene Name
- nucleotide binding oligomerization domain containing 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_006092.2 |
3184 |
Missense Mutation |
CGG,CTG |
R916L |
NP_006083.1 |
XM_005249568.1 |
3184 |
Missense Mutation |
CGG,CTG |
R916L |
XP_005249625.1 |
XM_005249572.1 |
3184 |
Missense Mutation |
CGG,CTG |
R916L |
XP_005249629.1 |
XM_005249576.1 |
3184 |
Missense Mutation |
CGG,CTG |
R668L |
XP_005249633.1 |
XM_006715633.2 |
3184 |
Missense Mutation |
CGG,CTG |
R916L |
XP_006715696.1 |
XM_011515079.1 |
3184 |
Missense Mutation |
CGG,CTG |
R916L |
XP_011513381.1 |
XM_011515080.2 |
3184 |
Missense Mutation |
CGG,CTG |
R916L |
XP_011513382.1 |
XM_011515081.2 |
3184 |
Missense Mutation |
CGG,CTG |
R916L |
XP_011513383.1 |
XM_011515083.1 |
3184 |
Missense Mutation |
CGG,CTG |
R900L |
XP_011513385.1 |
XM_011515084.1 |
3184 |
Missense Mutation |
CGG,CTG |
R888L |
XP_011513386.1 |
XM_011515085.1 |
3184 |
Missense Mutation |
CGG,CTG |
R832L |
XP_011513387.1 |
XM_011515087.1 |
3184 |
Intron |
|
|
XP_011513389.1 |
XM_011515088.2 |
3184 |
Intron |
|
|
XP_011513390.1 |
XM_017011674.1 |
3184 |
Missense Mutation |
CGG,CTG |
R916L |
XP_016867163.1 |
XM_017011675.1 |
3184 |
Missense Mutation |
CGG,CTG |
R888L |
XP_016867164.1 |
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