Product Details

SNP ID

rs146500316

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:29058831 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCTGCCAGGGAACCGGTCCCTCT[A/G]AGCACCTTCAGAGATGGCACCCTGA

Phenotype

MIM: 612062

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C22orf31 PubMed Links

Gene Details

Gene

C22orf31

Gene Name

chromosome 22 open reading frame 31

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015370.1	706	Nonsense Mutation	CAG,TAG	Q262*	NP_056185.1
XM_005261491.3	706	Nonsense Mutation	CAG,TAG	Q158*	XP_005261548.1
XM_011530096.2	706	Nonsense Mutation	CAG,TAG	Q221*	XP_011528398.1
XM_017028741.1	706	Nonsense Mutation	CAG,TAG	Q221*	XP_016884230.1

Gene

ZNRF3

Gene Name

zinc and ring finger 3

There are no transcripts associated with this gene.

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