Product Details

SNP ID

rs147260285

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:26486480 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGTGGACATACCATAGGTATCAT[G/T]TTTATTGTGGGACATTTAGTTTTCT

Phenotype

MIM: 606682 MIM: 602254 MIM: 612747

Polymorphism

G/T, Transversion 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		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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