Product Details

SNP ID

rs139365788

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:171522572 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCCATGGAGGGCTACTGGCGCTT[C/G]CTGGCGCTGCTGGGGTCGGCACTGC

Phenotype

MIM: 605745

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CYBRD1 PubMed Links

Gene Details

Gene

CYBRD1

Gene Name

cytochrome b reductase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127383.1	217	Missense Mutation	TTC,TTG	F9L	NP_001120855.1
NM_001256909.1	217	Intron			NP_001243838.1
NM_024843.3	217	Missense Mutation	TTC,TTG	F9L	NP_079119.3

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