Product Details

SNP ID

rs75472800

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:129004718 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAGGCCTTGAGCTAAGTACTTTA[C/T]GTGGCTTAACTCATTTAAGCCTCAC

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EFCC1 PubMed Links

Gene Details

Gene

EFCC1

Gene Name

EF-hand and coiled-coil domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024768.2		Intron			NP_079044.2
XM_005247781.3		Intron			XP_005247838.1
XM_011513161.2		Intron			XP_011511463.1
XM_011513163.2		Intron			XP_011511465.1
XM_011513164.2		Intron			XP_011511466.1

Gene

KIAA1257

Gene Name

KIAA1257

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020741.2		Intron			NP_065792.1
XM_011513050.2		Intron			XP_011511352.2
XM_017006939.1		Intron			XP_016862428.1
XM_017006940.1		Intron			XP_016862429.1
XM_017006941.1		Intron			XP_016862430.1
XM_017006942.1		Intron			XP_016862431.1
XM_017006943.1		Intron			XP_016862432.1
XM_017006944.1		Intron			XP_016862433.1
XM_017006945.1		Intron			XP_016862434.1
XM_017006946.1		Intron			XP_016862435.1
XM_017006947.1		Intron			XP_016862436.1
XM_017006948.1		Intron			XP_016862437.1
XM_017006949.1		Intron			XP_016862438.1
XM_017006950.1		Intron			XP_016862439.1
XM_017006951.1		Intron			XP_016862440.1
XM_017006952.1		Intron			XP_016862441.1
XM_017006953.1		Intron			XP_016862442.1
XM_017006954.1		Intron			XP_016862443.1

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