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SNP ID

rs140417639

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:94299561 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACTTTCTTCCGTAAAGTCACCAG[C/G]CTTGGATGGTTGTCTAACAGGTCAG

Phenotype

MIM: 602598 MIM: 612761

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HPGDS PubMed Links

Gene Details

Gene

HPGDS

Gene Name

hematopoietic prostaglandin D synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014485.2	610	Missense Mutation	AGC,AGG	S173R	NP_055300.1
XM_005262932.2	610	Missense Mutation	AGC,AGG	S142R	XP_005262989.1

Gene

SMARCAD1

Gene Name

SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1

There are no transcripts associated with this gene.

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