Product Details

SNP ID

rs143916090

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:119193163 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGGAAACCTACCTAGCTGCCCCC[A/G]AAGGCCTTTGACTTCTTCCTCCAGC

Phenotype

MIM: 611947 MIM: 607146

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC153 PubMed Links

Gene Details

Gene

CCDC153

Gene Name

coiled-coil domain containing 153

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145018.1	642	Missense Mutation	CGG,TGG	R113W	NP_001138490.1
XM_006718818.3	642	Missense Mutation	CGG,TGG	R85W	XP_006718881.1
XM_011542763.2	642	Missense Mutation	CGG,TGG	R273W	XP_011541065.1
XM_011542764.2	642	Missense Mutation	CGG,TGG	R273W	XP_011541066.1
XM_011542770.2	642	Missense Mutation	CGG,TGG	R113W	XP_011541072.1
XM_011542771.2	642	Missense Mutation	CGG,TGG	R105W	XP_011541073.1
XM_011542772.2	642	Missense Mutation	CGG,TGG	R105W	XP_011541074.1
XM_011542774.2	642	Missense Mutation	CGG,TGG	R175W	XP_011541076.1
XM_017017577.1	642	Missense Mutation	CGG,TGG	R201W	XP_016873066.1
XM_017017578.1	642	Missense Mutation	CGG,TGG	R148W	XP_016873067.1
XM_017017579.1	642	Missense Mutation	CGG,TGG	R42W	XP_016873068.1
XM_017017580.1	642	Missense Mutation	CGG,TGG	R113W	XP_016873069.1

Gene

NLRX1

Gene Name

NLR family member X1

There are no transcripts associated with this gene.

Gene

PDZD3

Gene Name

PDZ domain containing 3

There are no transcripts associated with this gene.

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