Product Details

SNP ID

rs143523668

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:231338435 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGCTTCAGGAGGAGTGGAACTTG[C/G]AGGAGGCGGAGCGCGATCATGCCCA

Phenotype

MIM: 615283 MIM: 616086

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EXOC8 PubMed Links

Gene Details

Gene

EXOC8

Gene Name

exocyst complex component 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175876.4	500	Intron			NP_787072.2

Gene

SPRTN

Gene Name

SprT-like N-terminal domain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010984.3	500	Missense Mutation	CAG,GAG	Q18E	NP_001010984.1
NM_001261462.2	500	Missense Mutation	CAG,GAG	Q18E	NP_001248391.1
NM_032018.6	500	Missense Mutation	CAG,GAG	Q18E	NP_114407.3
XM_006711818.2	500	Missense Mutation	CAG,GAG	Q18E	XP_006711881.1
XM_011544289.2	500	Intron			XP_011542591.1

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