Product Details

SNP ID

rs34376913

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.9:136484462 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

AAGCGGCCAGCCATGCCGGGCCCAC[C/T]CACCTGCACACCTGCCTGGCAAGGG

Phenotype

MIM: 190198 MIM: 612854

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C9orf163 PubMed Links

Gene Details

Gene

C9orf163

Gene Name

chromosome 9 open reading frame 163

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152571.2	968	Missense Mutation	CCC,CTC	P5L	NP_689784.1

Gene

NOTCH1

Gene Name

notch 1

There are no transcripts associated with this gene.

Gene

SEC16A

Gene Name

SEC16 homolog A, endoplasmic reticulum export factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001276418.1	968	Intron			NP_001263347.1
NM_014866.1	968	Intron			NP_055681.1
XM_005266134.2	968	Intron			XP_005266191.1
XM_011519246.2	968	Intron			XP_011517548.1
XM_011519247.1	968	Intron			XP_011517549.1
XM_011519248.2	968	Intron			XP_011517550.1
XM_011519249.1	968	Intron			XP_011517551.1
XM_011519250.2	968	Intron			XP_011517552.1
XM_011519251.1	968	Intron			XP_011517553.1
XM_011519252.2	968	Intron			XP_011517554.1
XM_011519253.1	968	Intron			XP_011517555.1
XM_011519254.1	968	Intron			XP_011517556.1
XM_011519255.2	968	Intron			XP_011517557.1
XM_011519256.1	968	Intron			XP_011517558.1
XM_011519257.1	968	Intron			XP_011517559.1
XM_011519258.1	968	Intron			XP_011517560.1
XM_011519259.1	968	Intron			XP_011517561.1
XM_011519260.2	968	Intron			XP_011517562.1
XM_011519261.1	968	Intron			XP_011517563.1
XM_011519262.1	968	Intron			XP_011517564.1
XM_011519263.2	968	Intron			XP_011517565.1
XM_011519264.2	968	Intron			XP_011517566.1
XM_017015363.1	968	Intron			XP_016870852.1
XM_017015364.1	968	Intron			XP_016870853.1

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