Product Details

SNP ID

rs146713767

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:171522589 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCGCTTCCTGGCGCTGCTGGGGT[C/T]GGCACTGCTCGTCGGCTTCCTGTCG

Phenotype

MIM: 605745

Polymorphism

C/T, Transition 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	234	Missense Mutation	TCG,TTG	S15L	NP_001120855.1
NM_001256909.1	234	Intron			NP_001243838.1
NM_024843.3	234	Missense Mutation	TCG,TTG	S15L	NP_079119.3

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