Product Details

SNP ID

rs939815

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.2:26568586 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CTTTAAAATGTGCCACCATTTGTCA[A/C]TTCCATTCAACAGATATTCACAGAA

Phenotype

MIM: 603681

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

C2orf70 PubMed Links

Gene Details

Gene

C2orf70

Gene Name

chromosome 2 open reading frame 70

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105519.2		Intron			NP_001098989.1
NM_001322426.1		Intron			NP_001309355.1
XM_011532810.2		Intron			XP_011531112.1
XM_011532811.2		Intron			XP_011531113.1
XM_017003962.1		Intron			XP_016859451.1
XM_017003963.1		Intron			XP_016859452.1
XM_017003964.1		Intron			XP_016859453.1
XM_017003965.1		Intron			XP_016859454.1
XM_017003966.1		Intron			XP_016859455.1

Gene

OTOF

Gene Name

otoferlin

There are no transcripts associated with this gene.

View Full Product Details