Product Details

SNP ID

rs57689808

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:72727237 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGCCAAGGGGGGTTTGAGGCTCC[C/T]CGTAGTTTCCACCCGTCACCCCCAA

Phenotype

MIM: 613663

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SHQ1 PubMed Links

Gene Details

Gene

SHQ1

Gene Name

SHQ1, H/ACA ribonucleoprotein assembly factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018130.2		Intron			NP_060600.2
XM_011533895.2		Intron			XP_011532197.1
XM_011533896.2		Intron			XP_011532198.1
XM_011533897.2		Intron			XP_011532199.1
XM_011533898.2		Intron			XP_011532200.1
XM_011533899.1		Intron			XP_011532201.1
XM_017006724.1		Intron			XP_016862213.1

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