Product Details

SNP ID

rs28639943

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:86515328 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTATAATGGATAATCAAATAGA[A/G]GGAAGGGCGGGATTGAATATTGTGA

Phenotype

MIM: 604207 MIM: 611871

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CPNE3 PubMed Links

Gene Details

Gene

CPNE3

Gene Name

copine 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003909.4		Intron			NP_003900.1
XM_005251093.4		Intron			XP_005251150.1
XM_017013945.1		Intron			XP_016869434.1

Gene

RMDN1

Gene Name

regulator of microtubule dynamics 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286707.1		Intron			NP_001273636.1
NM_001286719.1		Intron			NP_001273648.1
NM_001317807.1		Intron			NP_001304736.1
NM_016033.2		Intron			NP_057117.2
XM_005250944.3		Intron			XP_005251001.1
XM_005250947.3		Intron			XP_005251004.1
XM_005250948.3		Intron			XP_005251005.1
XM_006716573.3		Intron			XP_006716636.1
XM_011517090.2		Intron			XP_011515392.1
XM_011517091.2		Intron			XP_011515393.1
XM_011517092.2		Intron			XP_011515394.1
XM_011517093.2		Intron			XP_011515395.1
XM_011517094.2		Intron			XP_011515396.1
XM_011517095.2		Intron			XP_011515397.1
XM_011517096.2		Intron			XP_011515398.1
XM_011517097.2		Intron			XP_011515399.1
XM_011517098.2		Intron			XP_011515400.1
XM_017013518.1		Intron			XP_016869007.1
XM_017013519.1		Intron			XP_016869008.1
XM_017013520.1		Intron			XP_016869009.1
XM_017013521.1		Intron			XP_016869010.1
XM_017013522.1		Intron			XP_016869011.1
XM_017013523.1		Intron			XP_016869012.1
XM_017013524.1		Intron			XP_016869013.1
XM_017013525.1		Intron			XP_016869014.1
XM_017013526.1		Intron			XP_016869015.1
XM_017013527.1		Intron			XP_016869016.1
XM_017013528.1		Intron			XP_016869017.1

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