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 |
View Full Product Details