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SNP ID

rs142434256

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:197487939 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCATAACCAACTTCTGAGGAACT[C/T]TGCATAATTTTCTCAACTATCAAAG

Phenotype

MIM: 118190

Polymorphism

C/T, 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		Intron			NP_002147.2
NM_199440.1		Intron			NP_955472.1

Gene

SNORA105B

Gene Name

small nucleolar RNA, H/ACA box 105B

There are no transcripts associated with this gene.

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