Product Details

SNP ID: rs137950889
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:62735445 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTGAGAGAATATAGTCAGAAAGTCC[C/T]GGAACGACAGCCTGATAATGCCAAG
Phenotype
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: HNRNPUL2 PubMed Links

Gene Details

Gene: HNRNPUL2
Gene Name: heterogeneous nuclear ribonucleoprotein U like 2

There are no transcripts associated with this gene.

Gene: HNRNPUL2-BSCL2
Gene Name: HNRNPUL2-BSCL2 readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene: TTC9C
Gene Name: tetratricopeptide repeat domain 9C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318812.1	428	Missense Mutation	CCG,CTG	P101L	NP_001305741.1
NM_001318813.1	428	Missense Mutation	CCG,CTG	P101L	NP_001305742.1
NM_001318814.1	428	Missense Mutation	CCG,CTG	P17L	NP_001305743.1
NM_001318815.1	428	Missense Mutation	CCG,CTG	P17L	NP_001305744.1
NM_001318816.1	428	Missense Mutation	CCG,CTG	P17L	NP_001305745.1
NM_173810.3	428	Missense Mutation	CCG,CTG	P101L	NP_776171.1

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