Product Details

SNP ID

rs141833562

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:231338468 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCGCGATCATGCCCAGGAGTCC[C/T]TGTCGCTAGTGGACGCGTCGTGGGA

Phenotype

MIM: 615283 MIM: 616086

Polymorphism

C/T, Transition 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	533	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	533	Silent Mutation	CTG,TTG	L29L	NP_001010984.1
NM_001261462.2	533	Silent Mutation	CTG,TTG	L29L	NP_001248391.1
NM_032018.6	533	Silent Mutation	CTG,TTG	L29L	NP_114407.3
XM_006711818.2	533	Silent Mutation	CTG,TTG	L29L	XP_006711881.1
XM_011544289.2	533	Intron			XP_011542591.1

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