Product Details
- SNP ID
-
rs140360991
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.4:168894675 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGAGCCAGAAGAGGAAACAGCTAAT[C/G]AGGTACCATGTTGCTCTGGACTTCT
- Phenotype
-
MIM: 608092
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
CBR4
PubMed Links
Gene Details
- Gene
- CBR4
- Gene Name
- carbonyl reductase 4
- Gene
- PALLD
- Gene Name
- palladin, cytoskeletal associated protein
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001166108.1 |
3361 |
Missense Mutation |
CAG,GAG |
Q733E |
NP_001159580.1 |
NM_001166109.1 |
3361 |
Missense Mutation |
CAG,GAG |
Q351E |
NP_001159581.1 |
NM_001166110.1 |
3361 |
Missense Mutation |
CAG,GAG |
Q246E |
NP_001159582.1 |
NM_016081.3 |
3361 |
Missense Mutation |
CAG,GAG |
Q733E |
NP_057165.3 |
XM_005262861.4 |
3361 |
Missense Mutation |
CAG,GAG |
Q957E |
XP_005262918.1 |
XM_005262866.2 |
3361 |
Missense Mutation |
CAG,GAG |
Q575E |
XP_005262923.1 |
XM_011531768.2 |
3361 |
Missense Mutation |
CAG,GAG |
Q1025E |
XP_011530070.1 |
XM_011531769.2 |
3361 |
Missense Mutation |
CAG,GAG |
Q1025E |
XP_011530071.1 |
XM_011531770.2 |
3361 |
Missense Mutation |
CAG,GAG |
Q1025E |
XP_011530072.1 |
XM_011531771.2 |
3361 |
Missense Mutation |
CAG,GAG |
Q1025E |
XP_011530073.1 |
XM_011531772.2 |
3361 |
Intron |
|
|
XP_011530074.1 |
XM_011531773.1 |
3361 |
Missense Mutation |
CAG,GAG |
Q801E |
XP_011530075.1 |
XM_011531774.1 |
3361 |
Missense Mutation |
CAG,GAG |
Q801E |
XP_011530076.1 |
XM_011531775.1 |
3361 |
Missense Mutation |
CAG,GAG |
Q575E |
XP_011530077.1 |
XM_017007910.1 |
3361 |
Missense Mutation |
CAG,GAG |
Q1025E |
XP_016863399.1 |
XM_017007911.1 |
3361 |
Intron |
|
|
XP_016863400.1 |
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