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SNP ID

rs200135468

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:125238679 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGTTTATGCCACGGGATGGTTCC[C/T]TGCCATTGAAGAACTCTTTAACCAG

Phenotype

MIM: 138120 MIM: 605962

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HSPA5 PubMed Links

Gene Details

Gene

HSPA5

Gene Name

heat shock protein family A (Hsp70) member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005347.4	1406	Missense Mutation	AAG,AGG	K382R	NP_005338.1

Gene

RABEPK

Gene Name

Rab9 effector protein with kelch motifs

There are no transcripts associated with this gene.

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