Product Details

SNP ID

rs146965571

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:121743706 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTTTCTGAACAGCAGCATCCGCT[C/T]GGAGCACTTCTGCCCCACCAGGCTG

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	1425	Missense Mutation	AAG,GAG	K511E	NP_001001976.1
NM_001288734.1	1425	Missense Mutation	AAG,GAG	K396E	NP_001275663.1
NM_001288735.1	1425	Missense Mutation	AAG,GAG	K415E	NP_001275664.1
NM_001288736.1	1425	Missense Mutation	AAG,GAG	K504E	NP_001275665.1
NM_007041.3	1425	Missense Mutation	AAG,GAG	K511E	NP_008972.2
XM_005269458.2	1425	Missense Mutation	AAG,GAG	K554E	XP_005269515.1
XM_005269459.3	1425	Missense Mutation	AAG,GAG	K547E	XP_005269516.1
XM_017015597.1	1425	Missense Mutation	AAG,GAG	K477E	XP_016871086.1
XM_017015598.1	1425	Missense Mutation	AAG,GAG	K504E	XP_016871087.1
XM_017015599.1	1425	Missense Mutation	AAG,GAG	K468E	XP_016871088.1
XM_017015600.1	1425	Missense Mutation	AAG,GAG	K439E	XP_016871089.1
XM_017015601.1	1425	Intron			XP_016871090.1
XM_017015602.1	1425	Missense Mutation	AAG,GAG	K396E	XP_016871091.1
XM_017015603.1	1425	Intron			XP_016871092.1
XM_017015604.1	1425	Missense Mutation	AAG,GAG	K353E	XP_016871093.1

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