Product Details

SNP ID

rs200663740

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:99712153 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCATACTCCAATGAGTCCAGTTAA[A/G]CATTTGCCTTCTACCAAAATAAGAA

Phenotype

MIM: 611578

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FRRS1 PubMed Links

Gene Details

Gene

FRRS1

Gene Name

ferric chelate reductase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013660.2	1561	Missense Mutation	CTT,TTT	L478F	NP_001013682.2
XM_005270861.3	1561	Missense Mutation	CTT,TTT	L478F	XP_005270918.1
XM_011541451.2	1561	Missense Mutation	CTT,TTT	L478F	XP_011539753.1
XM_011541452.1	1561	Missense Mutation	CTT,TTT	L478F	XP_011539754.1
XM_017001271.1	1561	Missense Mutation	CTT,TTT	L478F	XP_016856760.1

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