Product Details

SNP ID

rs142638539

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136484834 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAGGGCCCAGCCCCAGCCCCGCTG[C/T]CCCCATCTGCTTCTTCCCAGTGGTC

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	1340	Missense Mutation	GCC,GTC	A129V	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	1340	Intron			NP_001263347.1
NM_014866.1	1340	Intron			NP_055681.1
XM_005266134.2	1340	Intron			XP_005266191.1
XM_011519246.2	1340	Intron			XP_011517548.1
XM_011519247.1	1340	Intron			XP_011517549.1
XM_011519248.2	1340	Intron			XP_011517550.1
XM_011519249.1	1340	Intron			XP_011517551.1
XM_011519250.2	1340	Intron			XP_011517552.1
XM_011519251.1	1340	Intron			XP_011517553.1
XM_011519252.2	1340	Intron			XP_011517554.1
XM_011519253.1	1340	Intron			XP_011517555.1
XM_011519254.1	1340	Intron			XP_011517556.1
XM_011519255.2	1340	Intron			XP_011517557.1
XM_011519256.1	1340	Intron			XP_011517558.1
XM_011519257.1	1340	Intron			XP_011517559.1
XM_011519258.1	1340	Intron			XP_011517560.1
XM_011519259.1	1340	Intron			XP_011517561.1
XM_011519260.2	1340	Intron			XP_011517562.1
XM_011519261.1	1340	Intron			XP_011517563.1
XM_011519262.1	1340	Intron			XP_011517564.1
XM_011519263.2	1340	Intron			XP_011517565.1
XM_011519264.2	1340	Intron			XP_011517566.1
XM_017015363.1	1340	Intron			XP_016870852.1
XM_017015364.1	1340	Intron			XP_016870853.1

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