Product Details

SNP ID

rs2072227

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:17494491 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCCACTCTGGCAGCACAAGGCCCTG[C/T]CACCCTTTGGAGACCCCTCTGGGTG

Phenotype

MIM: 605242

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

USH1C PubMed Links

Additional Information

For this assay, SNP(s) [rs113336938] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

USH1C

Gene Name

USH1 protein network component harmonin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297764.1	3842	Intron			NP_001284693.1
NM_005709.3	3842	Intron			NP_005700.2
NM_153676.3	3842	Intron			NP_710142.1
XM_011519832.2	3842	Intron			XP_011518134.1
XM_011519834.2	3842	Intron			XP_011518136.1
XM_017017072.1	3842	Intron			XP_016872561.1
XM_017017073.1	3842	Intron			XP_016872562.1
XM_017017074.1	3842	Intron			XP_016872563.1
XM_017017075.1	3842	UTR 3			XP_016872564.1

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