Product Details

SNP ID: rs200474160
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:137252494 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGGTTCCAGAGCGAAAGCCCCTTCA[C/G]GCAGAAAGCTGACTTCGACCAAGAG
Phenotype: MIM: 611180 MIM: 602660
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: C9orf173-AS1 PubMed Links

Gene Details

Gene: C9orf173-AS1
Gene Name: C9orf173 antisense RNA 1

There are no transcripts associated with this gene.

Gene: FAM166A
Gene Name: family with sequence similarity 166 member A

There are no transcripts associated with this gene.

Gene: NELFB
Gene Name: negative elongation factor complex member B

There are no transcripts associated with this gene.

Gene: STPG3
Gene Name: sperm-tail PG-rich repeat containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001004353.3	487	Missense Mutation	ACG,AGG	T154R	NP_001004353.2
NM_001256699.1	487	Missense Mutation	ACG,AGG	T154R	NP_001243628.1
NM_001256700.1	487	Missense Mutation	ACG,AGG	T154R	NP_001243629.1
NM_001256701.1	487	Missense Mutation	ACG,AGG	T154R	NP_001243630.1
XM_006717113.2	487	Missense Mutation	ACG,AGG	T154R	XP_006717176.1
XM_006717115.2	487	Missense Mutation	ACG,AGG	T154R	XP_006717178.1

Gene: TUBB4B
Gene Name: tubulin beta 4B class IVb

There are no transcripts associated with this gene.

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