Product Details

SNP ID

rs145574816

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:35575959 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTACGACACAGTGGGCACACAGT[C/G]TTCATTTTGGGTAAGAGGGGAGAAT

Phenotype

MIM: 601758

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LOC105371743 PubMed Links

Gene Details

Gene

LOC105371743

Gene Name

uncharacterized LOC105371743

There are no transcripts associated with this gene.

Gene

PEX12

Gene Name

peroxisomal biogenesis factor 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000286.2	1519	Missense Mutation	AAC,AAG	N301K	NP_000277.1

Gene

SNORD7

Gene Name

small nucleolar RNA, C/D box 7

There are no transcripts associated with this gene.

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