Product Details

SNP ID
rs200130685
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:151822698 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACTGGTTGTGGACGTCCTCTCTA[C/T]GGACAATCTTGTAGATGATCCAGTA
Phenotype
MIM: 138491
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GLRA1 PubMed Links

Gene Details

Gene
GLRA1
Gene Name
glycine receptor alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000171.3 1612 Missense Mutation CAT,CGT H442R NP_000162.2
NM_001146040.1 1612 Missense Mutation CAT,CGT H450R NP_001139512.1
NM_001292000.1 1612 Missense Mutation CAT,CGT H359R NP_001278929.1
XM_017009349.1 1612 Missense Mutation CAT,CGT H458R XP_016864838.1

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