Product Details

SNP ID

rs17853184

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:18283807 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGATTGACATACCATTGTCCCCTT[C/T]CATCAGGCTCATATCATTCAGATAC

Phenotype

MIM: 607521

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HPS5 PubMed Links

Gene Details

Gene

HPS5

Gene Name

HPS5, biogenesis of lysosomal organelles complex 2 subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007216.3	2980	Missense Mutation	AAA,GAA	K902E	NP_009147.3
NM_181507.1	2980	Missense Mutation	AAA,GAA	K1016E	NP_852608.1
NM_181508.1	2980	Missense Mutation	AAA,GAA	K902E	NP_852609.1
XM_011519862.1	2980	Missense Mutation	AAA,GAA	K1016E	XP_011518164.1
XM_011519863.1	2980	Missense Mutation	AAA,GAA	K1016E	XP_011518165.1
XM_011519864.1	2980	Missense Mutation	AAA,GAA	K1016E	XP_011518166.1
XM_011519865.1	2980	Missense Mutation	AAA,GAA	K979E	XP_011518167.1
XM_011519866.1	2980	Missense Mutation	AAA,GAA	K902E	XP_011518168.1
XM_011519867.1	2980	Missense Mutation	AAA,GAA	K902E	XP_011518169.1
XM_011519868.2	2980	Missense Mutation	AAA,GAA	K902E	XP_011518170.1
XM_017017149.1	2980	Missense Mutation	AAA,GAA	K1016E	XP_016872638.1
XM_017017150.1	2980	Missense Mutation	AAA,GAA	K1016E	XP_016872639.1
XM_017017151.1	2980	Missense Mutation	AAA,GAA	K979E	XP_016872640.1
XM_017017152.1	2980	Missense Mutation	AAA,GAA	K979E	XP_016872641.1
XM_017017153.1	2980	Missense Mutation	AAA,GAA	K979E	XP_016872642.1
XM_017017154.1	2980	Missense Mutation	AAA,GAA	K902E	XP_016872643.1

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