Product Details
- SNP ID
-
rs150226537
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.14:66508553 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATGGCGACCGAGGGAATGATCCTTA[C/G]TAACCACGACCATCAAATCCGTGTC
- Phenotype
-
MIM: 603930
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
GPHN
PubMed Links
Gene Details
- Gene
- GPHN
- Gene Name
- gephyrin
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001024218.1 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
NP_001019389.1 |
NM_020806.4 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
NP_065857.1 |
XM_005267254.3 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_005267311.1 |
XM_011536340.2 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_011534642.1 |
XM_011536342.2 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_011534644.1 |
XM_011536343.2 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_011534645.1 |
XM_011536344.2 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_011534646.1 |
XM_011536345.2 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_011534647.1 |
XM_011536346.2 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_011534648.1 |
XM_011536347.2 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_011534649.1 |
XM_017020913.1 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_016876402.1 |
XM_017020914.1 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_016876403.1 |
XM_017020915.1 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_016876404.1 |
XM_017020916.1 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_016876405.1 |
XM_017020917.1 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_016876406.1 |
XM_017020918.1 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_016876407.1 |
XM_017020919.1 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_016876408.1 |
XM_017020920.1 |
620 |
UTR 5 |
|
|
XP_016876409.1 |
XM_017020921.1 |
620 |
UTR 5 |
|
|
XP_016876410.1 |
XM_017020922.1 |
620 |
UTR 5 |
|
|
XP_016876411.1 |
XM_017020923.1 |
620 |
UTR 5 |
|
|
XP_016876412.1 |
XM_017020924.1 |
620 |
UTR 5 |
|
|
XP_016876413.1 |
XM_017020925.1 |
620 |
Missense Mutation |
ACT,AGT |
T9S |
XP_016876414.1 |
XM_017020926.1 |
620 |
UTR 5 |
|
|
XP_016876415.1 |
- Gene
- LINC00238
- Gene Name
- long intergenic non-protein coding RNA 238
There are no transcripts associated with this gene.
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