Product Details

SNP ID
rs201102830
Assay Type
Functionally tested
NCBI dbSNP Submissions
10
Location
Chr.1:100133096 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGCAGCCATGTTTGTTAAGGGAA[A/G]GAGACCCGAAGGAAGCTTCTAACTT
Phenotype
MIM: 609321
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SASS6 PubMed Links

Gene Details

Gene
SASS6
Gene Name
SAS-6 centriolar assembly protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304829.1 17 Intron NP_001291758.1
NM_194292.2 17 Intron NP_919268.1
XM_017000486.1 17 Intron XP_016855975.1
Gene
TRMT13
Gene Name
tRNA methyltransferase 13 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019083.2 17 Intron NP_061956.2
XM_005270945.3 17 UTR 5 XP_005271002.1
XM_005270946.2 17 Intron XP_005271003.1
XM_017001504.1 17 Intron XP_016856993.1
XM_017001505.1 17 Intron XP_016856994.1

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