Product Details

SNP ID
rs199762246
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:112862579 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGAGGGAAGGCGAATCCCCATAA[A/G]TAAGGTAAGCAAGATGGCTGGCACC
Phenotype
MIM: 182175
Polymorphism
A/G, Transition 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_001204193.1 302 Missense Mutation AAT,AGT N38S NP_001191122.1
NM_001204194.1 302 Missense Mutation AAT,AGT N38S NP_001191123.1
NM_001204196.1 302 Intron NP_001191125.1
NM_001204199.1 302 Missense Mutation AAT,AGT N38S NP_001191128.1
NM_003135.2 302 Missense Mutation AAT,AGT N38S NP_003126.1

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