Product Details

SNP ID

rs112911622

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:134963189 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGCACCCTGAATTTCCAACCCTC[A/G]CACAACTGTTAGCTACATGCTTTGT

Phenotype

MIM: 612450

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HBS1L PubMed Links

Gene Details

Gene

HBS1L

Gene Name

HBS1 like translational GTPase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145158.1	4352	UTR 3			NP_001138630.1
NM_001145207.1	4352	Intron			NP_001138679.1
NM_006620.3	4352	UTR 3			NP_006611.1
XM_017010192.1	4352	Intron			XP_016865681.1

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