Product Details
- SNP ID
-
rs199793647
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:152656327 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TAATTTATTGATCATCATCCAGTTG[C/T]TCCAAAAGGGTTCTTCTGCGCTTTT
- Phenotype
-
MIM: 616285
MIM: 612941
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
FMNL2
PubMed Links
Gene Details
- Gene
- FMNL2
- Gene Name
- formin like 2
There are no transcripts associated with this gene.
- Gene
- PRPF40A
- Gene Name
- pre-mRNA processing factor 40 homolog A
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_017892.3 |
3011 |
Silent Mutation |
GAA,GAG |
E924E |
NP_060362.3 |
XM_005246676.4 |
3011 |
Silent Mutation |
GAA,GAG |
E1030E |
XP_005246733.3 |
XM_005246677.4 |
3011 |
Silent Mutation |
GAA,GAG |
E928E |
XP_005246734.2 |
XM_011511446.2 |
3011 |
Silent Mutation |
GAA,GAG |
E1016E |
XP_011509748.1 |
XM_011511447.2 |
3011 |
Intron |
|
|
XP_011509749.1 |
XM_011511448.2 |
3011 |
Silent Mutation |
GAA,GAG |
E910E |
XP_011509750.1 |
XM_011511449.2 |
3011 |
Silent Mutation |
GAA,GAG |
E872E |
XP_011509751.1 |
XM_017004453.1 |
3011 |
Silent Mutation |
GAA,GAG |
E1034E |
XP_016859942.1 |
XM_017004454.1 |
3011 |
Silent Mutation |
GAA,GAG |
E1012E |
XP_016859943.1 |
XM_017004455.1 |
3011 |
Silent Mutation |
GAA,GAG |
E906E |
XP_016859944.1 |
XM_017004456.1 |
3011 |
Silent Mutation |
GAA,GAG |
E872E |
XP_016859945.1 |
XM_017004457.1 |
3011 |
Silent Mutation |
GAA,GAG |
E868E |
XP_016859946.1 |
XM_017004458.1 |
3011 |
Silent Mutation |
GAA,GAG |
E854E |
XP_016859947.1 |
XM_017004459.1 |
3011 |
Silent Mutation |
GAA,GAG |
E854E |
XP_016859948.1 |
XM_017004460.1 |
3011 |
Silent Mutation |
GAA,GAG |
E850E |
XP_016859949.1 |
XM_017004461.1 |
3011 |
Silent Mutation |
GAA,GAG |
E850E |
XP_016859950.1 |
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