Product Details

SNP ID
rs200302290
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:67729203 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTTTGTCCCAGGCACCGGGGTCA[C/T]CACCTACGCAGTGCACCCAGGCGTC
Phenotype
MIM: 603930 MIM: 608830 MIM: 612012
Polymorphism
C/T, 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 8191 Intron NP_001019389.1
NM_020806.4 8191 Intron NP_065857.1
XM_005267254.3 8191 Intron XP_005267311.1
XM_011536340.2 8191 Intron XP_011534642.1
XM_011536342.2 8191 Intron XP_011534644.1
XM_011536343.2 8191 Intron XP_011534645.1
XM_011536344.2 8191 Intron XP_011534646.1
XM_011536345.2 8191 Intron XP_011534647.1
XM_011536346.2 8191 Intron XP_011534648.1
XM_011536347.2 8191 Intron XP_011534649.1
XM_017020913.1 8191 Intron XP_016876402.1
XM_017020914.1 8191 Intron XP_016876403.1
XM_017020915.1 8191 Intron XP_016876404.1
XM_017020916.1 8191 Intron XP_016876405.1
XM_017020917.1 8191 Intron XP_016876406.1
XM_017020918.1 8191 Intron XP_016876407.1
XM_017020919.1 8191 Intron XP_016876408.1
XM_017020920.1 8191 Intron XP_016876409.1
XM_017020921.1 8191 Intron XP_016876410.1
XM_017020922.1 8191 Intron XP_016876411.1
XM_017020923.1 8191 Intron XP_016876412.1
XM_017020924.1 8191 Intron XP_016876413.1
XM_017020925.1 8191 Intron XP_016876414.1
XM_017020926.1 8191 Intron XP_016876415.1
Gene
RDH12
Gene Name
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152443.2 8191 Missense Mutation ACC,ATC T224I NP_689656.2
Gene
ZFYVE26
Gene Name
zinc finger FYVE-type containing 26
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015346.3 8191 Intron NP_056161.2
XM_011536609.2 8191 Intron XP_011534911.1
XM_017021124.1 8191 Intron XP_016876613.1
XM_017021125.1 8191 UTR 3 XP_016876614.1
XM_017021126.1 8191 Intron XP_016876615.1
XM_017021127.1 8191 Intron XP_016876616.1
XM_017021128.1 8191 Intron XP_016876617.1

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