Product Details

SNP ID

rs78256644

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5289556 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGGTTTTTTATATTTTGTAGTCC[A/G]ATCCATTTGCAATTTATTTATTTTT

Phenotype

MIM: 603616

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

RABEP1 PubMed Links

Additional Information

For this assay, SNP(s) [rs138574954] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

RABEP1

Gene Name

rabaptin, RAB GTPase binding effector protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001083585.2		Intron			NP_001077054.1
NM_001291581.1		Intron			NP_001278510.1
NM_001291582.1		Intron			NP_001278511.1
NM_004703.5		Intron			NP_004694.2
XM_011524060.1		Intron			XP_011522362.1
XM_017025294.1		Intron			XP_016880783.1
XM_017025295.1		Intron			XP_016880784.1

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