Product Details
- SNP ID
-
rs200629305
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:65376847 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATTCTGGCCTTCTGGTGTGTACTGG[C/T]GACAGAGCCCTTCATAGGTGATGAA
- Phenotype
-
MIM: 610825
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
FRMD8
PubMed Links
Gene Details
- Gene
- FRMD8
- Gene Name
- FERM domain containing 8
There are no transcripts associated with this gene.
- Gene
- SLC25A45
- Gene Name
- solute carrier family 25 member 45
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001077241.2 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
NP_001070709.2 |
NM_001278250.2 |
1578 |
Missense Mutation |
CAC,CGC |
H166R |
NP_001265179.2 |
NM_001278251.2 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
NP_001265180.2 |
NM_001300820.1 |
1578 |
Missense Mutation |
CAC,CGC |
H128R |
NP_001287749.1 |
NM_182556.3 |
1578 |
Missense Mutation |
CAC,CGC |
H190R |
NP_872362.3 |
XM_006718509.3 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
XP_006718572.1 |
XM_006718510.3 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
XP_006718573.1 |
XM_011544943.2 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
XP_011543245.1 |
XM_011544944.2 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
XP_011543246.1 |
XM_011544947.2 |
1578 |
Missense Mutation |
CAC,CGC |
H190R |
XP_011543249.1 |
XM_011544949.2 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
XP_011543251.1 |
XM_017017562.1 |
1578 |
Missense Mutation |
CAC,CGC |
H190R |
XP_016873051.1 |
XM_017017563.1 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
XP_016873052.1 |
XM_017017564.1 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
XP_016873053.1 |
XM_017017565.1 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
XP_016873054.1 |
XM_017017566.1 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
XP_016873055.1 |
XM_017017567.1 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
XP_016873056.1 |
XM_017017568.1 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
XP_016873057.1 |
XM_017017569.1 |
1578 |
Missense Mutation |
CAC,CGC |
H148R |
XP_016873058.1 |
XM_017017570.1 |
1578 |
Missense Mutation |
CAC,CGC |
H86R |
XP_016873059.1 |
XM_017017571.1 |
1578 |
Missense Mutation |
CAC,CGC |
H86R |
XP_016873060.1 |
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