Product Details

SNP ID

rs144416594

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:97460697 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGTCTCCAGAAAGGACGTACCC[A/G]GGCTGTAAGGCAGGAGCTGAGAGGA

Phenotype

MIM: 614777 MIM: 616750

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MMS19 PubMed Links

Gene Details

Gene

MMS19

Gene Name

MMS19 homolog, cytosolic iron-sulfur assembly component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001289403.1	3093	Missense Mutation	CGG,TGG	R780W	NP_001276332.1
NM_001289404.1	3093	Missense Mutation	CGG,TGG	R664W	NP_001276333.1
NM_001289405.1	3093	Missense Mutation	CGG,TGG	R823W	NP_001276334.1
NM_022362.4	3093	Missense Mutation	CGG,TGG	R823W	NP_071757.4
XM_005270035.2	3093	Missense Mutation	CGG,TGG	R665W	XP_005270092.1
XM_005270041.1	3093	Missense Mutation	CGG,TGG	R622W	XP_005270098.1
XM_006717944.3	3093	Missense Mutation	CGG,TGG	R822W	XP_006718007.2
XM_006717945.2	3093	Missense Mutation	CGG,TGG	R459W	XP_006718008.1
XM_011540062.1	3093	Missense Mutation	CGG,TGG	R622W	XP_011538364.1
XM_011540063.2	3093	Missense Mutation	CGG,TGG	R408W	XP_011538365.1
XM_017016515.1	3093	Missense Mutation	CGG,TGG	R862W	XP_016872004.1
XM_017016516.1	3093	Missense Mutation	CGG,TGG	R861W	XP_016872005.1
XM_017016517.1	3093	Missense Mutation	CGG,TGG	R819W	XP_016872006.1
XM_017016518.1	3093	Missense Mutation	CGG,TGG	R779W	XP_016872007.1
XM_017016519.1	3093	Missense Mutation	CGG,TGG	R764W	XP_016872008.1
XM_017016520.1	3093	Missense Mutation	CGG,TGG	R725W	XP_016872009.1
XM_017016521.1	3093	Missense Mutation	CGG,TGG	R724W	XP_016872010.1
XM_017016522.1	3093	Missense Mutation	CGG,TGG	R665W	XP_016872011.1
XM_017016523.1	3093	Missense Mutation	CGG,TGG	R665W	XP_016872012.1
XM_017016524.1	3093	Missense Mutation	CGG,TGG	R664W	XP_016872013.1
XM_017016525.1	3093	Missense Mutation	CGG,TGG	R459W	XP_016872014.1
XM_017016526.1	3093	Missense Mutation	CGG,TGG	R459W	XP_016872015.1
XM_017016527.1	3093	Missense Mutation	CGG,TGG	R459W	XP_016872016.1
XM_017016528.1	3093	Missense Mutation	CGG,TGG	R459W	XP_016872017.1
XM_017016529.1	3093	Missense Mutation	CGG,TGG	R459W	XP_016872018.1
XM_017016530.1	3093	Missense Mutation	CGG,TGG	R459W	XP_016872019.1
XM_017016531.1	3093	Missense Mutation	CGG,TGG	R459W	XP_016872020.1
XM_017016532.1	3093	Missense Mutation	CGG,TGG	R459W	XP_016872021.1
XM_017016533.1	3093	Missense Mutation	CGG,TGG	R458W	XP_016872022.1
XM_017016534.1	3093	Missense Mutation	CGG,TGG	R407W	XP_016872023.1
XM_017016535.1	3093	Missense Mutation	CGG,TGG	R407W	XP_016872024.1

Gene

ZDHHC16

Gene Name

zinc finger DHHC-type containing 16

There are no transcripts associated with this gene.

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