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SNP ID

rs139591977

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47166830 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGGCTCCTGCGAATTTCTGACGC[A/G]CCTCACTAGACTCGAGGCCTGAGCT

Phenotype

MIM: 606908

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARFGAP2 PubMed Links

Gene Details

Gene

ARFGAP2

Gene Name

ADP ribosylation factor GTPase activating protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242832.1	1987	Missense Mutation	GCG,GTG	A393V	NP_001229761.1
NM_032389.4	1987	Missense Mutation	GCG,GTG	A421V	NP_115765.2
XM_005253166.1	1987	Missense Mutation	GCG,GTG	A460V	XP_005253223.1
XM_005253167.1	1987	Missense Mutation	GCG,GTG	A449V	XP_005253224.1
XM_005253168.2	1987	Missense Mutation	GCG,GTG	A435V	XP_005253225.1
XM_006718346.1	1987	Missense Mutation	GCG,GTG	A446V	XP_006718409.1
XM_011520405.1	1987	Missense Mutation	GCG,GTG	A407V	XP_011518707.1
XM_017018413.1	1987	Missense Mutation	GCG,GTG	A435V	XP_016873902.1
XM_017018414.1	1987	Missense Mutation	GCG,GTG	A298V	XP_016873903.1
XM_017018415.1	1987	Missense Mutation	GCG,GTG	A284V	XP_016873904.1

Gene

C11orf49

Gene Name

chromosome 11 open reading frame 49

There are no transcripts associated with this gene.

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