Product Details

SNP ID

rs144411624

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136484969 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCGTGGGGCTCGCCTTTTGCCGC[G/T]CGCGAGTTCAAAGAACCCAAGAGCC

Phenotype

MIM: 190198 MIM: 612854

Polymorphism

G/T, Transversion 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	1475	Missense Mutation	CGC,CTC	R174L	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	1475	Intron			NP_001263347.1
NM_014866.1	1475	Intron			NP_055681.1
XM_005266134.2	1475	Intron			XP_005266191.1
XM_011519246.2	1475	Intron			XP_011517548.1
XM_011519247.1	1475	Intron			XP_011517549.1
XM_011519248.2	1475	Intron			XP_011517550.1
XM_011519249.1	1475	Intron			XP_011517551.1
XM_011519250.2	1475	Intron			XP_011517552.1
XM_011519251.1	1475	Intron			XP_011517553.1
XM_011519252.2	1475	Intron			XP_011517554.1
XM_011519253.1	1475	Intron			XP_011517555.1
XM_011519254.1	1475	Intron			XP_011517556.1
XM_011519255.2	1475	Intron			XP_011517557.1
XM_011519256.1	1475	Intron			XP_011517558.1
XM_011519257.1	1475	Intron			XP_011517559.1
XM_011519258.1	1475	Intron			XP_011517560.1
XM_011519259.1	1475	Intron			XP_011517561.1
XM_011519260.2	1475	Intron			XP_011517562.1
XM_011519261.1	1475	Intron			XP_011517563.1
XM_011519262.1	1475	Intron			XP_011517564.1
XM_011519263.2	1475	Intron			XP_011517565.1
XM_011519264.2	1475	Intron			XP_011517566.1
XM_017015363.1	1475	Intron			XP_016870852.1
XM_017015364.1	1475	Intron			XP_016870853.1

View Full Product Details