Product Details

SNP ID
rs1135966
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:227472481 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCACCTGAAGATGCTGCGGGACAT[C/G]ACCGGCCTCCCGCACAACCGAAAGT
Phenotype
MIM: 600862
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
AGFG1 PubMed Links

Gene Details

Gene
AGFG1
Gene Name
ArfGAP with FG repeats 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135187.1 310 Missense Mutation ATC,ATG I20M NP_001128659.1
NM_001135188.1 310 Missense Mutation ATC,ATG I20M NP_001128660.1
NM_001135189.1 310 Missense Mutation ATC,ATG I20M NP_001128661.1
NM_004504.4 310 Missense Mutation ATC,ATG I20M NP_004495.2
XM_005246516.3 310 Missense Mutation ATC,ATG I20M XP_005246573.1
XM_006712478.3 310 Missense Mutation ATC,ATG I20M XP_006712541.1
XM_006712479.3 310 Missense Mutation ATC,ATG I20M XP_006712542.1
XM_006712480.3 310 Missense Mutation ATC,ATG I20M XP_006712543.1
XM_006712481.3 310 Intron XP_006712544.1
XM_017003954.1 310 Intron XP_016859443.1
Gene
MIR5703
Gene Name
microRNA 5703
There are no transcripts associated with this gene.

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