Product Details

SNP ID

rs1602914

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5286813 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAACAACAAACGTAAGCAAATGATA[C/T]GGGTTGTTAGATGATAAGTGCAATG

Phenotype

MIM: 603616

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RABEP1 PubMed Links

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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