Product Details

SNP ID

rs140426940

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31732327 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATCTTCAGCACTGGTTTCATCCA[C/G]TTCTTCTGGGAGGGGGGATGTTAAG

Phenotype

MIM: 606520 MIM: 602872 MIM: 604744 MIM: 603382

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

C6orf25 PubMed Links

Gene Details

Gene

C6orf25

Gene Name

chromosome 6 open reading frame 25

There are no transcripts associated with this gene.

Gene

CLIC1

Gene Name

chloride intracellular channel 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287593.1	1027	Missense Mutation	CTG,GTG	L152V	NP_001274522.1
NM_001287594.1	1027	Intron			NP_001274523.1
NM_001288.4	1027	Missense Mutation	CTG,GTG	L152V	NP_001279.2

Gene

DDAH2

Gene Name

dimethylarginine dimethylaminohydrolase 2

There are no transcripts associated with this gene.

Gene

MSH5

Gene Name

mutS homolog 5

There are no transcripts associated with this gene.

Gene

MSH5-SAPCD1

Gene Name

MSH5-SAPCD1 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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