Product Details

SNP ID

rs2072229

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.11:17496633 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AGGAGTTTTCTAGGAGCTCTGGCTA[C/T]GAGAAGCTGCGTGCTTGGGCCATTC

Phenotype

MIM: 605242

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

USH1C PubMed Links

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		Intron			NP_001284693.1
NM_005709.3		Intron			NP_005700.2
NM_153676.3		Intron			NP_710142.1
XM_011519832.2		Intron			XP_011518134.1
XM_011519834.2		Intron			XP_011518136.1
XM_017017072.1		Intron			XP_016872561.1
XM_017017073.1		Intron			XP_016872562.1
XM_017017074.1		Intron			XP_016872563.1
XM_017017075.1		Intron			XP_016872564.1

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