Product Details

SNP ID
rs17850763
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:26492094 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGACAAAGACCACTCCCCGGTC[A/G]ATGTAGATCACAATGCGGCCAAAGG
Phenotype
MIM: 606682 MIM: 602254 MIM: 612747
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
HPS4 PubMed Links

Gene Details

Gene
HPS4
Gene Name
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
There are no transcripts associated with this gene.

Gene
SRRD
Gene Name
SRR1 domain containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013694.2 1512 Intron NP_001013716.2
XM_011530178.2 1512 UTR 3 XP_011528480.1
XM_017028799.1 1512 Intron XP_016884288.1
Gene
TFIP11
Gene Name
tuftelin interacting protein 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008697.1 1512 Silent Mutation ATC,ATT I811I NP_001008697.1
NM_012143.2 1512 Silent Mutation ATC,ATT I811I NP_036275.1
XM_011530079.1 1512 Silent Mutation ATC,ATT I811I XP_011528381.1
XM_017028735.1 1512 Silent Mutation ATC,ATT I811I XP_016884224.1

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