Product Details

SNP ID

rs201520712

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:197540123 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGCATTTTCAGGCAGTTCTGCCT[C/T]GAGCTAAATGGACTTGCTGTCAAAC

Phenotype

MIM: 609361

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HSPE1-MOB4 PubMed Links

Gene Details

Gene

HSPE1-MOB4

Gene Name

HSPE1-MOB4 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202485.1	235	Silent Mutation	CTC,CTT	L115L	NP_001189414.1

Gene

MOB4

Gene Name

MOB family member 4, phocein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100819.2	235	Silent Mutation	CTC,CTT	L58L	NP_001094289.1
NM_001204094.1	235	Silent Mutation	CTC,CTT	L47L	NP_001191023.1
NM_015387.4	235	Silent Mutation	CTC,CTT	L79L	NP_056202.2
NM_199482.3	235	Silent Mutation	CTC,CTT	L47L	NP_955776.1

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