Product Details
- SNP ID
-
rs201470968
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.15:44666410 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TACTTACTCCATCCTGGCCTCCAGC[G/T]GCTGAACCAATTGTTTGTCCACGTG
- Phenotype
-
MIM: 614661
MIM: 610844
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
PATL2
PubMed Links
Gene Details
- Gene
- PATL2
- Gene Name
- PAT1 homolog 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001145112.1 |
2120 |
Missense Mutation |
CAG,CCG |
Q532P |
NP_001138584.1 |
XM_011521336.2 |
2120 |
Silent Mutation |
GCA,GCC |
A537A |
XP_011519638.2 |
XM_011521337.2 |
2120 |
Silent Mutation |
GCA,GCC |
A534A |
XP_011519639.2 |
XM_011521338.2 |
2120 |
Silent Mutation |
GCA,GCC |
A499A |
XP_011519640.1 |
XM_011521339.2 |
2120 |
Silent Mutation |
GCA,GCC |
A499A |
XP_011519641.1 |
XM_011521340.2 |
2120 |
Silent Mutation |
GCA,GCC |
A499A |
XP_011519642.1 |
XM_011521341.1 |
2120 |
Silent Mutation |
GCA,GCC |
A499A |
XP_011519643.1 |
XM_011521342.2 |
2120 |
Silent Mutation |
GCA,GCC |
A425A |
XP_011519644.1 |
XM_011521343.2 |
2120 |
Silent Mutation |
GCA,GCC |
A415A |
XP_011519645.1 |
XM_011521344.2 |
2120 |
Silent Mutation |
GCA,GCC |
A415A |
XP_011519646.1 |
XM_011521345.2 |
2120 |
Silent Mutation |
GCA,GCC |
A412A |
XP_011519647.1 |
XM_011521346.2 |
2120 |
Silent Mutation |
GCA,GCC |
A392A |
XP_011519648.2 |
XM_011521347.1 |
2120 |
Silent Mutation |
GCA,GCC |
A310A |
XP_011519649.1 |
XM_011521348.2 |
2120 |
Missense Mutation |
CAG,CCG |
Q343P |
XP_011519650.1 |
XM_017022000.1 |
2120 |
Missense Mutation |
CAG,CCG |
Q570P |
XP_016877489.1 |
XM_017022001.1 |
2120 |
Silent Mutation |
GCA,GCC |
A412A |
XP_016877490.1 |
- Gene
- SPG11
- Gene Name
- spastic paraplegia 11 (autosomal recessive)
There are no transcripts associated with this gene.
View Full Product Details