Product Details

SNP ID

rs200472582

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:57745750 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCTGCTCTTTCTTCGTAGCTGGT[A/G]AGCTTGTTGCTCATTGGAGTGGCTG

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

There are no transcripts associated with this gene.

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	1148	Silent Mutation	GTA,GTG	V23V	NP_005972.1
XM_005269074.3	1148	Silent Mutation	GTA,GTG	V113V	XP_005269131.2
XM_017019793.1	1148	Intron			XP_016875282.1

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