Product Details

SNP ID

rs148544839

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:42799151 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGTTGGGCAGCACACTGGACAGG[C/T]TGTAGTTCCCTGCACACACACAGCA

Phenotype

MIM: 612439

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARFGAP3 PubMed Links

Gene Details

Gene

ARFGAP3

Gene Name

ADP ribosylation factor GTPase activating protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142293.1	1641	Missense Mutation	AAC,AGC	N430S	NP_001135765.1
NM_014570.4	1641	Missense Mutation	AAC,AGC	N474S	NP_055385.3
XM_005261525.3	1641	Missense Mutation	AAC,AGC	N430S	XP_005261582.1

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