Product Details

SNP ID
rs11626129
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:67683547 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAACCTGATTTCCTTCTGCAGAAT[C/T]ACCTTTTCCCCTCAATATAGTTTGA
Phenotype
MIM: 603930 MIM: 607849 MIM: 603207
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 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
RDH11
Gene Name
retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001252650.1 Intron NP_001239579.1
NM_016026.3 Intron NP_057110.3
Gene
VTI1B
Gene Name
vesicle transport through interaction with t-SNAREs 1B
There are no transcripts associated with this gene.

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