Product Details

SNP ID

rs13302273

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:125207586 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGTACACCTTGACTGTCCCTGGA[A/G]ACAGCCCCTGTGCTCGAGTTGGCCA

Phenotype

MIM: 605962

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LOC105376271 PubMed Links

Gene Details

Gene

LOC105376271

Gene Name

uncharacterized LOC105376271

There are no transcripts associated with this gene.

Gene

RABEPK

Gene Name

Rab9 effector protein with kelch motifs

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001174152.1	405	Missense Mutation	AAC,GAC	N26D	NP_001167623.1
NM_001174153.1	405	Missense Mutation	AAC,GAC	N26D	NP_001167624.1
NM_005833.3	405	Missense Mutation	AAC,GAC	N26D	NP_005824.2
XM_005251640.4	405	Missense Mutation	AAC,GAC	N34D	XP_005251697.1
XM_005251641.4	405	Missense Mutation	AAC,GAC	N34D	XP_005251698.1
XM_005251642.4	405	Missense Mutation	AAC,GAC	N34D	XP_005251699.1
XM_005251644.4	405	Missense Mutation	AAC,GAC	N34D	XP_005251701.1
XM_011518120.2	405	Missense Mutation	AAC,GAC	N34D	XP_011516422.1
XM_017014177.1	405	Missense Mutation	AAC,GAC	N26D	XP_016869666.1
XM_017014178.1	405	Missense Mutation	AAC,GAC	N26D	XP_016869667.1
XM_017014179.1	405	UTR 5			XP_016869668.1
XM_017014180.1	405	Missense Mutation	AAC,GAC	N26D	XP_016869669.1
XM_017014181.1	405	Missense Mutation	AAC,GAC	N26D	XP_016869670.1
XM_017014182.1	405	Missense Mutation	AAC,GAC	N26D	XP_016869671.1
XM_017014183.1	405	Missense Mutation	AAC,GAC	N26D	XP_016869672.1

View Full Product Details