Product Details

SNP ID: rs148530634
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:197501208 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AAGGAAAAGTATTGCAAGCAACAGT[A/G]GTCGCTGTTGGATCGGGTTCTAAAG
Phenotype: MIM: 118190 MIM: 600141
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: HSPD1 PubMed Links

Gene Details

Gene: HSPD1
Gene Name: heat shock protein family D (Hsp60) member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002156.4	578	Intron			NP_002147.2
NM_199440.1	578	Intron			NP_955472.1

Gene: HSPE1
Gene Name: heat shock protein family E (Hsp10) member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002157.2	578	Silent Mutation	GTA,GTG	V46V	NP_002148.1

Gene: HSPE1-MOB4
Gene Name: HSPE1-MOB4 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202485.1	578	Silent Mutation	GTA,GTG	V46V	NP_001189414.1

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