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SNP ID: rs148139537
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:57727130 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TAGCCACGTCCTGGGCCTGCACGGC[A/G]GCCCACAGCTGGCGGCCCAGCGGCT
Phenotype: MIM: 605476 MIM: 609677
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: AGAP2 PubMed Links

Gene Details

Gene: AGAP2
Gene Name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122772.2	2302	Silent Mutation	GCC,GCT	A1060A	NP_001116244.1
NM_014770.3	2302	Silent Mutation	GCC,GCT	A704A	NP_055585.1
XM_005268625.3	2302	Silent Mutation	GCC,GCT	A1040A	XP_005268682.1
XM_005268626.2	2302	Silent Mutation	GCC,GCT	A724A	XP_005268683.1
XM_017018772.1	2302	Silent Mutation	GCC,GCT	A1060A	XP_016874261.1

Gene: AGAP2-AS1
Gene Name: AGAP2 antisense RNA 1

There are no transcripts associated with this gene.

Gene: OS9
Gene Name: OS9, endoplasmic reticulum lectin

There are no transcripts associated with this gene.

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