Product Details

SNP ID
rs200920342
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:76040460 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGAGGAGGAGGTCTCTGTTTGAT[A/G]AGCGTCGTTTGCATCTGAAAGTTTC
Phenotype
MIM: 604858
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SRP68 PubMed Links

Gene Details

Gene
SRP68
Gene Name
signal recognition particle 68
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001260502.1 1650 Missense Mutation CAT,TAT H501Y NP_001247431.1
NM_001260503.1 1650 Missense Mutation CAT,TAT H200Y NP_001247432.1
NM_014230.3 1650 Missense Mutation CAT,TAT H539Y NP_055045.2

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