Product Details

SNP ID

rs138796290

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:58543278 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACCTTTGCGGAGGGCTTGGTTTC[A/G]GGATAGGCAGAATACTTATGAAGAG

Phenotype

MIM: 603696

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C17orf47 PubMed Links

Gene Details

Gene

C17orf47

Gene Name

chromosome 17 open reading frame 47

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001038704.2	1095	Silent Mutation	CCC,CCT	P303P	NP_001033793.2
XM_011524637.2	1095	Silent Mutation	CCC,CCT	P303P	XP_011522939.1
XM_017024498.1	1095	Silent Mutation	CCC,CCT	P303P	XP_016879987.1

Gene

SEPT4

Gene Name

septin 4

There are no transcripts associated with this gene.

Gene

SEPT4-AS1

Gene Name

SEPT4 antisense RNA 1

There are no transcripts associated with this gene.

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