Product Details

SNP ID

rs201260975

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:119186493 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACCCTCCAGATCCCTGGAGCCTG[A/G]AGCGGCCTCGCTTCTGTTTACTGAG

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

There are no transcripts associated with this gene.

Gene

NLRX1

Gene Name

NLR family member X1

There are no transcripts associated with this gene.

Gene

PDZD3

Gene Name

PDZ domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168468.1	171	Missense Mutation	AAG,GAG	K45E	NP_001161940.1
NM_024791.3	171	Missense Mutation	AAG,GAG	K45E	NP_079067.3
XM_011543000.2	171	Missense Mutation	AAG,GAG	K111E	XP_011541302.1
XM_011543001.2	171	Missense Mutation	AAG,GAG	K111E	XP_011541303.1
XM_011543002.2	171	Missense Mutation	AAG,GAG	K111E	XP_011541304.1
XM_011543005.2	171	Missense Mutation	AAG,GAG	K46E	XP_011541307.1
XM_017018334.1	171	Missense Mutation	AAG,GAG	K111E	XP_016873823.1
XM_017018335.1	171	Missense Mutation	AAG,GAG	K111E	XP_016873824.1
XM_017018336.1	171	Missense Mutation	AAG,GAG	K111E	XP_016873825.1
XM_017018337.1	171	Missense Mutation	AAG,GAG	K111E	XP_016873826.1

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