Product Details

SNP ID

rs146549419

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:60426236 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCAGGGACCTTCCCCAGAAGAAG[A/T]AGCTGAAGTACATGAAGCAGAGCCT

Phenotype

MIM: 607740

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

C17orf64 PubMed Links

Gene Details

Gene

C17orf64

Gene Name

chromosome 17 open reading frame 64

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181707.2	614	Nonsense Mutation	AAG,TAG	K77*	NP_859058.2
XM_005257033.4	614	Nonsense Mutation	AAG,TAG	K110*	XP_005257090.1
XM_005257034.4	614	Nonsense Mutation	AAG,TAG	K110*	XP_005257091.1
XM_005257035.4	614	Nonsense Mutation	AAG,TAG	K40*	XP_005257092.1
XM_005257036.2	614	Nonsense Mutation	AAG,TAG	K77*	XP_005257093.1
XM_017024166.1	614	Nonsense Mutation	AAG,TAG	K40*	XP_016879655.1

Gene

RPL12P38

Gene Name

ribosomal protein L12 pseudogene 38

There are no transcripts associated with this gene.

Gene

USP32

Gene Name

ubiquitin specific peptidase 32

There are no transcripts associated with this gene.

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