Product Details

SNP ID

rs146021095

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:52404860 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTATGAGTCCAAGTACTGGAAAGA[A/G]GAGTGCTTTGGACTTACAGGTAAGT

Phenotype

MIM: 601902 MIM: 617031

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ORC1 PubMed Links

Gene Details

Gene

ORC1

Gene Name

origin recognition complex subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190818.1	314	Intron			NP_001177747.1
NM_001190819.1	314	Intron			NP_001177748.1
NM_004153.3	314	Intron			NP_004144.2
XM_011541527.2	314	Intron			XP_011539829.1
XM_017001388.1	314	Intron			XP_016856877.1
XM_017001389.1	314	Intron			XP_016856878.1

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	314	Silent Mutation	GAA,GAG	E37E	NP_116253.2
XM_011542315.2	314	Silent Mutation	GAA,GAG	E37E	XP_011540617.1

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