Product Details

SNP ID
rs143026183
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:121743824 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGATGGCTCTCTTGTGAAACACCTG[C/T]AATCGGTCAGGTTCCGTACTGCGAT
Phenotype
MIM: 607103
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATE1 PubMed Links

Gene Details

Gene
ATE1
Gene Name
arginyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001976.2 1307 Silent Mutation TTA,TTG L471L NP_001001976.1
NM_001288734.1 1307 Silent Mutation TTA,TTG L356L NP_001275663.1
NM_001288735.1 1307 Silent Mutation TTA,TTG L375L NP_001275664.1
NM_001288736.1 1307 Silent Mutation TTA,TTG L464L NP_001275665.1
NM_007041.3 1307 Silent Mutation TTA,TTG L471L NP_008972.2
XM_005269458.2 1307 Silent Mutation TTA,TTG L514L XP_005269515.1
XM_005269459.3 1307 Silent Mutation TTA,TTG L507L XP_005269516.1
XM_017015597.1 1307 Silent Mutation TTA,TTG L437L XP_016871086.1
XM_017015598.1 1307 Silent Mutation TTA,TTG L464L XP_016871087.1
XM_017015599.1 1307 Silent Mutation TTA,TTG L428L XP_016871088.1
XM_017015600.1 1307 Silent Mutation TTA,TTG L399L XP_016871089.1
XM_017015601.1 1307 Intron XP_016871090.1
XM_017015602.1 1307 Silent Mutation TTA,TTG L356L XP_016871091.1
XM_017015603.1 1307 Intron XP_016871092.1
XM_017015604.1 1307 Silent Mutation TTA,TTG L313L XP_016871093.1

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