Product Details

SNP ID

rs199800294

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:26488120 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATCTTTGGAAACCTGCATCTTGA[C/G]TCATTGCCAGAGGAGTCAGATGTGG

Phenotype

MIM: 606682 MIM: 602254 MIM: 612747

Polymorphism

C/G, 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	361	Missense Mutation	GAC,GAG	D114E	NP_001013716.2
XM_011530178.2	361	Missense Mutation	GAC,GAG	D43E	XP_011528480.1
XM_017028799.1	361	Missense Mutation	GAC,GAG	D114E	XP_016884288.1

Gene

TFIP11

Gene Name

tuftelin interacting protein 11

There are no transcripts associated with this gene.

View Full Product Details