Product Details

SNP ID

rs112145890

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31742911 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATCAATCCCCAGTCTGTTGTTAC[A/G]AGTGCCAAACAGGATGAGAATATGA

Phenotype

MIM: 602872 MIM: 603382

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CLIC1 PubMed Links

Gene Details

Gene

CLIC1

Gene Name

chloride intracellular channel 1

There are no transcripts associated with this gene.

Gene

MSH5

Gene Name

mutS homolog 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002441.4	434	Silent Mutation	ACA,ACG	T102T	NP_002432.1
NM_025259.5	434	Silent Mutation	ACA,ACG	T102T	NP_079535.4
NM_172165.3	434	Silent Mutation	ACA,ACG	T102T	NP_751897.1
NM_172166.3	434	Silent Mutation	ACA,ACG	T102T	NP_751898.1

Gene

MSH5-SAPCD1

Gene Name

MSH5-SAPCD1 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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