Product Details

SNP ID

rs146021551

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:58494994 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGCACAGCAGTGACGGATGTCCA[A/G]CCTCATCTGAAGCTCACGCACCTGT

Phenotype

MIM: 603559

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HSF5 PubMed Links

Gene Details

Gene

HSF5

Gene Name

heat shock transcription factor 5

There are no transcripts associated with this gene.

Gene

MTMR4

Gene Name

myotubularin related protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004687.4	3375	Silent Mutation	CTG,TTG	L1050L	NP_004678.3
XM_005257784.2	3375	Silent Mutation	CTG,TTG	L1064L	XP_005257841.1
XM_005257785.4	3375	Silent Mutation	CTG,TTG	L1054L	XP_005257842.1
XM_005257786.4	3375	Silent Mutation	CTG,TTG	L1050L	XP_005257843.1
XM_006722168.3	3375	Silent Mutation	CTG,TTG	L1050L	XP_006722231.1
XM_011525460.2	3375	Silent Mutation	CTG,TTG	L1054L	XP_011523762.1

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