Product Details

SNP ID: rs200403711
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:38736150 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGGTGTAGTATTCCTTCAGTGGCTC[C/G]TCCTCGTACAGAACCTCCACCTGGG
Phenotype: MIM: 611933 MIM: 600328 MIM: 600346
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: CISD3 PubMed Links

Gene Details

Gene: CISD3
Gene Name: CDGSH iron sulfur domain 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136498.1	1859	Intron			NP_001129970.1

Gene: MLLT6
Gene Name: MLLT6, PHD finger domain containing

There are no transcripts associated with this gene.

Gene: PCGF2
Gene Name: polycomb group ring finger 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007144.2	1859	Silent Mutation	GAC,GAG	D199E	NP_009075.1
XM_005257640.2	1859	Missense Mutation	GAC,GAG	D199E	XP_005257697.1
XM_005257641.4	1859	Missense Mutation	GAC,GAG	D199E	XP_005257698.1
XM_005257642.3	1859	Missense Mutation	GAC,GAG	D199E	XP_005257699.1
XM_017025016.1	1859	Missense Mutation	GAC,GAG	D199E	XP_016880505.1

View Full Product Details