Product Details
- SNP ID
-
rs202075719
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:49102187 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTTCCGTTGCCAGGCTGAAGCCTTC[C/T]GCCTCTTCTCTGTGCAGGGATGGGA
- Phenotype
-
MIM: 605423
MIM: 610007
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DHH
PubMed Links
Gene Details
- Gene
- DHH
- Gene Name
- desert hedgehog
There are no transcripts associated with this gene.
- Gene
- LMBR1L
- Gene Name
- limb development membrane protein 1 like
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001300750.1 |
1197 |
Missense Mutation |
CAG,CGG |
Q283R |
NP_001287679.1 |
| NM_001300751.1 |
1197 |
Missense Mutation |
CAG,CGG |
Q288R |
NP_001287680.1 |
| NM_018113.3 |
1197 |
Missense Mutation |
CAG,CGG |
Q288R |
NP_060583.2 |
| XM_011538563.2 |
1197 |
Missense Mutation |
CAG,CGG |
Q283R |
XP_011536865.1 |
| XM_011538564.2 |
1197 |
Missense Mutation |
CAG,CGG |
Q249R |
XP_011536866.1 |
| XM_011538565.2 |
1197 |
Missense Mutation |
CAG,CGG |
Q161R |
XP_011536867.1 |
| XM_011538566.2 |
1197 |
Missense Mutation |
CAG,CGG |
Q80R |
XP_011536868.1 |
| XM_017019626.1 |
1197 |
Missense Mutation |
CAG,CGG |
Q283R |
XP_016875115.1 |
| XM_017019627.1 |
1197 |
Missense Mutation |
CAG,CGG |
Q283R |
XP_016875116.1 |
| XM_017019628.1 |
1197 |
Missense Mutation |
CAG,CGG |
Q288R |
XP_016875117.1 |
| XM_017019629.1 |
1197 |
Missense Mutation |
CAG,CGG |
Q249R |
XP_016875118.1 |
| XM_017019630.1 |
1197 |
Missense Mutation |
CAG,CGG |
Q80R |
XP_016875119.1 |
| XM_017019631.1 |
1197 |
Missense Mutation |
CAG,CGG |
Q80R |
XP_016875120.1 |
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