Product Details

SNP ID
rs4822724
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:26484590 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TAGCTTAATCATTCTACACACTTTA[C/T]GTTAAACATTGCAGGCATACTAGGA
Phenotype
MIM: 606682 MIM: 602254 MIM: 612747
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
HPS4 PubMed Links

Gene Details

Gene
HPS4
Gene Name
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022081.5 Intron NP_071364.4
NM_152841.2 Intron NP_690054.1
XM_006724353.3 Intron XP_006724416.1
XM_006724354.3 Intron XP_006724417.1
XM_006724360.3 Intron XP_006724423.1
XM_011530485.1 Intron XP_011528787.1
XM_011530486.2 Intron XP_011528788.1
XM_011530487.2 Intron XP_011528789.1
XM_011530488.2 Intron XP_011528790.1
XM_011530489.2 Intron XP_011528791.1
XM_011530490.2 Intron XP_011528792.1
XM_011530491.2 Intron XP_011528793.1
XM_011530492.1 Intron XP_011528794.1
XM_011530493.2 Intron XP_011528795.1
XM_011530494.2 Intron XP_011528796.1
XM_011530495.2 Intron XP_011528797.1
XM_011530496.2 Intron XP_011528798.1
XM_017029042.1 Intron XP_016884531.1
XM_017029043.1 Intron XP_016884532.1
XM_017029044.1 Intron XP_016884533.1
XM_017029045.1 Intron XP_016884534.1
XM_017029046.1 Intron XP_016884535.1
XM_017029047.1 Intron XP_016884536.1
XM_017029048.1 Intron XP_016884537.1
XM_017029049.1 Intron XP_016884538.1
XM_017029050.1 Intron XP_016884539.1
XM_017029051.1 Intron XP_016884540.1
XM_017029052.1 Intron XP_016884541.1
XM_017029053.1 Intron XP_016884542.1
XM_017029054.1 Intron XP_016884543.1
XM_017029055.1 Intron XP_016884544.1
XM_017029056.1 Intron XP_016884545.1
XM_017029057.1 Intron XP_016884546.1
XM_017029058.1 Intron XP_016884547.1
XM_017029059.1 Intron XP_016884548.1
XM_017029060.1 Intron XP_016884549.1
XM_017029061.1 Intron XP_016884550.1
XM_017029062.1 Intron XP_016884551.1
XM_017029063.1 Intron XP_016884552.1
XM_017029064.1 Intron XP_016884553.1
Gene
SRRD
Gene Name
SRR1 domain containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013694.2 Intron NP_001013716.2
XM_011530178.2 Intron XP_011528480.1
XM_017028799.1 Intron XP_016884288.1
Gene
TFIP11
Gene Name
tuftelin interacting protein 11
There are no transcripts associated with this gene.

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