Product Details

SNP ID
rs1049307475
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:67472082 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCAATGCCCATGAGTGTGGCAGGG[C/T]TAATACTGTTTAAGGAGTGAGCTCA
Phenotype
MIM: 603930
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 2252 Intron NP_001019389.1
NM_020806.4 2252 Intron NP_065857.1
Gene
TMEM229B
Gene Name
transmembrane protein 229B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_182526.2 2252 UTR 3 NP_872332.1

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