Product Details
- SNP ID
-
rs201084870
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:200892038 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCCCGTTCCTTCATGGATTTGAAGG[C/T]TCTCCTTTCTTCCTTGAATGACTTT
- Phenotype
-
MIM: 605778
MIM: 615811
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
NIF3L1
PubMed Links
Gene Details
- Gene
- NIF3L1
- Gene Name
- NGG1 interacting factor 3 like 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001136039.2 |
322 |
Missense Mutation |
GCT,GTT |
A32V |
NP_001129511.1 |
NM_001142355.1 |
322 |
Missense Mutation |
GCT,GTT |
A5V |
NP_001135827.1 |
NM_001142356.1 |
322 |
Missense Mutation |
GCT,GTT |
A32V |
NP_001135828.1 |
NM_021824.3 |
322 |
Missense Mutation |
GCT,GTT |
A5V |
NP_068596.2 |
XM_005246742.3 |
322 |
Missense Mutation |
GCT,GTT |
A32V |
XP_005246799.1 |
XM_011511582.1 |
322 |
Missense Mutation |
GCT,GTT |
A32V |
XP_011509884.1 |
XM_011511583.1 |
322 |
Missense Mutation |
GCT,GTT |
A32V |
XP_011509885.1 |
XM_011511584.1 |
322 |
Missense Mutation |
GCT,GTT |
A32V |
XP_011509886.1 |
XM_011511585.1 |
322 |
Missense Mutation |
GCT,GTT |
A5V |
XP_011509887.1 |
XM_017004630.1 |
322 |
Missense Mutation |
GCT,GTT |
A32V |
XP_016860119.1 |
- Gene
- PPIL3
- Gene Name
- peptidylprolyl isomerase like 3
There are no transcripts associated with this gene.
View Full Product Details