Product Details

SNP ID
rs2227954
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57748551 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CACTCCGGATTACCTTCATCCTTAT[A/G]TAGATAAGAGTGCTGCAGAGCTCGA
Phenotype
MIM: 605476 MIM: 123829 MIM: 613336 MIM: 181035
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
There are no transcripts associated with this gene.

Gene
CDK4
Gene Name
cyclin dependent kinase 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000075.3 1178 Missense Mutation CAT,TAT H296Y NP_000066.1
Gene
MARCH9
Gene Name
membrane associated ring-CH-type finger 9
There are no transcripts associated with this gene.

Gene
MIR6759
Gene Name
microRNA 6759
There are no transcripts associated with this gene.

Gene
TSPAN31
Gene Name
tetraspanin 31
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005981.3 1178 Intron NP_005972.1
XM_005269074.3 1178 Intron XP_005269131.2
XM_017019793.1 1178 Intron XP_016875282.1

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