Product Details

SNP ID

rs143782793

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:58543248 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACGTTGGACTCCACCTGTGATGA[C/T]ACTAAGACCTTTGCGGAGGGCTTGG

Phenotype

MIM: 603696

Polymorphism

C/T, 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	1125	Silent Mutation	GTA,GTG	V313V	NP_001033793.2
XM_011524637.2	1125	Silent Mutation	GTA,GTG	V313V	XP_011522939.1
XM_017024498.1	1125	Silent Mutation	GTA,GTG	V313V	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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