Product Details

SNP ID
rs113014534
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:52658444 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTCTCTAGAACTCAATCCAAATA[A/T]TTCCACTGCTATGCTGAGAAAAGGG
Phenotype
MIM: 604098
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
SUGT1 PubMed Links

Gene Details

Gene
SUGT1
Gene Name
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130912.2 463 Missense Mutation AAT,ATT N78I NP_001124384.1
NM_001320831.1 463 Missense Mutation AAT,ATT N22I NP_001307760.1
NM_006704.4 463 Missense Mutation AAT,ATT N78I NP_006695.1
XM_011534891.2 463 UTR 5 XP_011533193.1
XM_011534893.2 463 UTR 5 XP_011533195.1
XM_017020365.1 463 Missense Mutation AAT,ATT N78I XP_016875854.1
XM_017020366.1 463 Missense Mutation AAT,ATT N22I XP_016875855.1
XM_017020367.1 463 Missense Mutation AAT,ATT N22I XP_016875856.1
XM_017020368.1 463 UTR 5 XP_016875857.1

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