Product Details
- SNP ID
-
rs73945645
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:72945085 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGGCCTGGGCTATCTCCGGCTCTAA[C/T]TGGGATGTTTCAATCTGTGGAGAGA
- Phenotype
-
MIM: 600034
MIM: 615572
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
EMX1
PubMed Links
Gene Details
- Gene
- EMX1
- Gene Name
- empty spiracles homeobox 1
There are no transcripts associated with this gene.
- Gene
- SFXN5
- Gene Name
- sideroflexin 5
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_144579.2 |
1098 |
Silent Mutation |
CAA,CAG |
Q320Q |
NP_653180.1 |
XM_005264648.1 |
1098 |
Silent Mutation |
CAA,CAG |
Q169Q |
XP_005264705.1 |
XM_006712147.1 |
1098 |
Missense Mutation |
AAT,AGT |
N253S |
XP_006712210.1 |
XM_011533186.2 |
1098 |
UTR 3 |
|
|
XP_011531488.1 |
XM_011533187.2 |
1098 |
Silent Mutation |
CAA,CAG |
Q377Q |
XP_011531489.1 |
XM_011533188.2 |
1098 |
UTR 3 |
|
|
XP_011531490.1 |
XM_011533189.1 |
1098 |
UTR 3 |
|
|
XP_011531491.1 |
XM_011533190.2 |
1098 |
UTR 3 |
|
|
XP_011531492.1 |
XM_011533192.2 |
1098 |
UTR 3 |
|
|
XP_011531494.1 |
XM_011533194.2 |
1098 |
Missense Mutation |
AAT,AGT |
N338S |
XP_011531496.1 |
XM_011533195.2 |
1098 |
Missense Mutation |
AAT,AGT |
N310S |
XP_011531497.1 |
XM_011533196.2 |
1098 |
UTR 3 |
|
|
XP_011531498.1 |
XM_011533197.1 |
1098 |
UTR 3 |
|
|
XP_011531499.1 |
XM_017005340.1 |
1098 |
Silent Mutation |
CAA,CAG |
Q330Q |
XP_016860829.1 |
XM_017005341.1 |
1098 |
Missense Mutation |
AAT,AGT |
N291S |
XP_016860830.1 |
XM_017005342.1 |
1098 |
Missense Mutation |
AAT,AGT |
N281S |
XP_016860831.1 |
XM_017005343.1 |
1098 |
Missense Mutation |
AAT,AGT |
N234S |
XP_016860832.1 |
XM_017005344.1 |
1098 |
Silent Mutation |
CAA,CAG |
Q216Q |
XP_016860833.1 |
XM_017005345.1 |
1098 |
UTR 3 |
|
|
XP_016860834.1 |
XM_017005346.1 |
1098 |
UTR 3 |
|
|
XP_016860835.1 |
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