Product Details

SNP ID
rs72721029
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:67542085 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGAGGGAGAGTTGCGGAAAGTCA[A/G]CTTTCAGTAAGATGCTTTTCCCCAT
Phenotype
MIM: 603930
Polymorphism
A/G, Transition 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 Intron NP_001019389.1
NM_020806.4 Intron NP_065857.1
XM_005267254.3 Intron XP_005267311.1
XM_011536340.2 Intron XP_011534642.1
XM_011536342.2 Intron XP_011534644.1
XM_011536343.2 Intron XP_011534645.1
XM_011536344.2 Intron XP_011534646.1
XM_011536345.2 Intron XP_011534647.1
XM_011536346.2 Intron XP_011534648.1
XM_011536347.2 Intron XP_011534649.1
XM_017020913.1 Intron XP_016876402.1
XM_017020914.1 Intron XP_016876403.1
XM_017020915.1 Intron XP_016876404.1
XM_017020916.1 Intron XP_016876405.1
XM_017020917.1 Intron XP_016876406.1
XM_017020918.1 Intron XP_016876407.1
XM_017020919.1 Intron XP_016876408.1
XM_017020920.1 Intron XP_016876409.1
XM_017020921.1 Intron XP_016876410.1
XM_017020922.1 Intron XP_016876411.1
XM_017020923.1 Intron XP_016876412.1
XM_017020924.1 Intron XP_016876413.1
XM_017020925.1 Intron XP_016876414.1
XM_017020926.1 Intron XP_016876415.1
Gene
PLEKHH1
Gene Name
pleckstrin homology, MyTH4 and FERM domain containing H1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020715.2 Intron NP_065766.1
XM_011537009.1 Intron XP_011535311.1
XM_011537015.2 Intron XP_011535317.1
XM_017021499.1 Intron XP_016876988.1
XM_017021500.1 Intron XP_016876989.1
XM_017021501.1 Intron XP_016876990.1
XM_017021502.1 Intron XP_016876991.1
XM_017021503.1 Intron XP_016876992.1
XM_017021504.1 Intron XP_016876993.1
Gene
TMEM229B
Gene Name
transmembrane protein 229B
There are no transcripts associated with this gene.

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