Product Details

SNP ID
rs141292443
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:70157840 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGAAAGACAATCCCATTAATTGCT[A/G]GGAGATAATTTTTCCAAACGCGACG
Phenotype
MIM: 607691
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SAR1A PubMed Links

Gene Details

Gene
SAR1A
Gene Name
secretion associated Ras related GTPase 1A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142648.1 475 Missense Mutation CCA,CTA P91L NP_001136120.1
NM_020150.4 475 Intron NP_064535.1

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