Product Details

SNP ID: rs1044521
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:35699714 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CAAAATGGGCTTCGTGATGGGTTGC[C/G]CCGTGGGCATGGCGGCCGGGGCGCT
Phenotype: MIM: 603485 MIM: 604739
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: NFS1 PubMed Links

Gene Details

Gene: NFS1
Gene Name: NFS1 cysteine desulfurase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198989.1	224	Intron			NP_001185918.1
NM_021100.4	224	Intron			NP_066923.3

Gene: RBM39
Gene Name: RNA binding motif protein 39

There are no transcripts associated with this gene.

Gene: ROMO1
Gene Name: reactive oxygen species modulator 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080748.2	224	Missense Mutation	CCC,GCC	P28A	NP_542786.1
XM_017027678.1	224	Missense Mutation	CCC,GCC	P28A	XP_016883167.1

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