Product Details

SNP ID
rs200900423
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:67592656 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACCTGGAAGACGGGTACTACTTG[G/T]GATATCCCATGTGGTTCCACTGGAT
Phenotype
MIM: 603930 MIM: 600154
Polymorphism
G/T, 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_001024218.1 549 Intron NP_001019389.1
NM_020806.4 549 Intron NP_065857.1
XM_005267254.3 549 Intron XP_005267311.1
XM_011536340.2 549 Intron XP_011534642.1
XM_011536342.2 549 Intron XP_011534644.1
XM_011536343.2 549 Intron XP_011534645.1
XM_011536344.2 549 Intron XP_011534646.1
XM_011536345.2 549 Intron XP_011534647.1
XM_011536346.2 549 Intron XP_011534648.1
XM_011536347.2 549 Intron XP_011534649.1
XM_017020913.1 549 Intron XP_016876402.1
XM_017020914.1 549 Intron XP_016876403.1
XM_017020915.1 549 Intron XP_016876404.1
XM_017020916.1 549 Intron XP_016876405.1
XM_017020917.1 549 Intron XP_016876406.1
XM_017020918.1 549 Intron XP_016876407.1
XM_017020919.1 549 Intron XP_016876408.1
XM_017020920.1 549 Intron XP_016876409.1
XM_017020921.1 549 Intron XP_016876410.1
XM_017020922.1 549 Intron XP_016876411.1
XM_017020923.1 549 Intron XP_016876412.1
XM_017020924.1 549 Intron XP_016876413.1
XM_017020925.1 549 Intron XP_016876414.1
XM_017020926.1 549 Intron XP_016876415.1
Gene
PIGH
Gene Name
phosphatidylinositol glycan anchor biosynthesis class H
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004569.3 549 Silent Mutation TCA,TCC S151S NP_004560.1
XM_011536838.2 549 Silent Mutation TCA,TCC S151S XP_011535140.1
XM_017021371.1 549 Silent Mutation TCA,TCC S150S XP_016876860.1
XM_017021372.1 549 Silent Mutation TCA,TCC S150S XP_016876861.1
Gene
PLEKHH1
Gene Name
pleckstrin homology, MyTH4 and FERM domain containing H1
There are no transcripts associated with this gene.

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