Product Details

SNP ID

rs143238060

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:143356620 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGGATGTGACGTCAGACACCTTC[C/T]GGCTGAGAGCGGTAGACATCTCAGG

Phenotype

MIM: 118425

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CLCN1 PubMed Links

Gene Details

Gene

CLCN1

Gene Name

chloride voltage-gated channel 1

There are no transcripts associated with this gene.

Gene

FAM131B

Gene Name

family with sequence similarity 131 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031690.2	1149	Missense Mutation	CAG,CGG	Q338R	NP_001026860.2
NM_001278297.1	1149	Missense Mutation	CAG,CGG	Q244R	NP_001265226.1
NM_014690.4	1149	Missense Mutation	CAG,CGG	Q310R	NP_055505.3
XM_005250073.3	1149	Missense Mutation	CAG,CGG	Q310R	XP_005250130.1
XM_006716186.2	1149	Missense Mutation	CAG,CGG	Q278R	XP_006716249.1

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