Product Details

SNP ID

rs17601227

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:137893725 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAATTTGAAACTTATCAAGGAGACA[C/G]GGTCATTTCCTGGAAGAGGGCAAGT

Phenotype

MIM: 604103 MIM: 604669

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MYOT PubMed Links

Gene Details

Gene

MYOT

Gene Name

myotilin

There are no transcripts associated with this gene.

Gene

PKD2L2

Gene Name

polycystin 2 like 2, transient receptor potential cation channel

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001258448.1		Intron			NP_001245377.1
NM_001258449.1		Intron			NP_001245378.1
NM_001300921.1		Intron			NP_001287850.1
NM_014386.3		Intron			NP_055201.2
XM_011543318.2		Intron			XP_011541620.1
XM_011543321.1		Intron			XP_011541623.1
XM_017009343.1		Intron			XP_016864832.1
XM_017009344.1		Intron			XP_016864833.1
XM_017009345.1		Intron			XP_016864834.1

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