Product Details

SNP ID

rs201055560

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:52412531 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTGTAGAAACGCTATGTATTAGA[C/G]GAAGCTGAGCAACTGGAGCCTCGAG

Phenotype

MIM: 601902 MIM: 617031

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ORC1 PubMed Links

Gene Details

Gene

ORC1

Gene Name

origin recognition complex subunit 1

There are no transcripts associated with this gene.

Gene

PRPF38A

Gene Name

pre-mRNA processing factor 38A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032864.3	719	Missense Mutation	GAC,GAG	D172E	NP_116253.2
XM_011542315.2	719	Missense Mutation	GAC,GAG	D172E	XP_011540617.1

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