Product Details

SNP ID
rs201250324
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:112862509 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTTATGCTATTGTCTATGGCAGG[G/T]TTATTTGTATCTATCCTGCTTATTT
Phenotype
MIM: 182175
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
SRP19 PubMed Links

Gene Details

Gene
SRP19
Gene Name
signal recognition particle 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204193.1 232 Missense Mutation GTT,TTT V15F NP_001191122.1
NM_001204194.1 232 Missense Mutation GTT,TTT V15F NP_001191123.1
NM_001204196.1 232 Intron NP_001191125.1
NM_001204199.1 232 Missense Mutation GTT,TTT V15F NP_001191128.1
NM_003135.2 232 Missense Mutation GTT,TTT V15F NP_003126.1

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