Product Details

SNP ID

rs142723729

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:102828578 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTTAATGCCTGTTTAAGCTTCAG[C/T]GGAAAAGCTGTCTTCTTGGCTCAGC

Phenotype

MIM: 607909

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AZIN1 PubMed Links

Gene Details

Gene

AZIN1

Gene Name

antizyme inhibitor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301668.1	1715	Missense Mutation	CAC,CGC	H363R	NP_001288597.1
NM_015878.5	1715	Missense Mutation	ACT,GCT	T446A	NP_056962.2
NM_148174.3	1715	Missense Mutation	ACT,GCT	T446A	NP_680479.1
XM_005250969.1	1715	Missense Mutation	ACT,GCT	T445A	XP_005251026.1
XM_011517126.1	1715	Missense Mutation	ACT,GCT	T446A	XP_011515428.1
XM_011517127.1	1715	Missense Mutation	ACT,GCT	T446A	XP_011515429.1
XM_011517128.2	1715	Missense Mutation	ACT,GCT	T279A	XP_011515430.1
XM_017013563.1	1715	Missense Mutation	ACT,GCT	T445A	XP_016869052.1
XM_017013564.1	1715	Missense Mutation	ACT,GCT	T445A	XP_016869053.1
XM_017013565.1	1715	Missense Mutation	ACT,GCT	T279A	XP_016869054.1
XM_017013566.1	1715	Missense Mutation	ACT,GCT	T278A	XP_016869055.1

Gene

LOC107986873

Gene Name

forkhead box protein L2-like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_017014121.1	1715	Intron			XP_016869610.1

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