Product Details
- SNP ID
-
rs139678787
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:6409346 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAAATTATTCAAAGACATTTACAAC[A/G]CAGCTTGTGGATATGGGGGCAAAGG
- Phenotype
-
MIM: 607117
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
LOC100287015
PubMed Links
Gene Details
- Gene
- LOC100287015
- Gene Name
- uncharacterized LOC100287015
There are no transcripts associated with this gene.
- Gene
- MCPH1
- Gene Name
- microcephalin 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001172574.1 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
NP_001166045.1 |
NM_001172575.1 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
NP_001166046.1 |
NM_001322042.1 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
NP_001308971.1 |
NM_001322043.1 |
166 |
Silent Mutation |
ACA,ACG |
T28T |
NP_001308972.1 |
NM_001322045.1 |
166 |
UTR 5 |
|
|
NP_001308974.1 |
NM_024596.4 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
NP_078872.2 |
XM_011534755.2 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
XP_011533057.1 |
XM_011534756.2 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
XP_011533058.1 |
XM_011534757.2 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
XP_011533059.1 |
XM_011534758.2 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
XP_011533060.1 |
XM_011534759.2 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
XP_011533061.1 |
XM_011534760.2 |
166 |
Intron |
|
|
XP_011533062.1 |
XM_017013829.1 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
XP_016869318.1 |
XM_017013830.1 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
XP_016869319.1 |
XM_017013831.1 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
XP_016869320.1 |
XM_017013832.1 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
XP_016869321.1 |
XM_017013833.1 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
XP_016869322.1 |
XM_017013834.1 |
166 |
Silent Mutation |
ACA,ACG |
T30T |
XP_016869323.1 |
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