Product Details

SNP ID

rs189219270

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:184346741 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGGCACTGTCTCGGAAGCTGGC[A/G]AGGGGCGGCCGGACTTTCACACCCT

Phenotype

MIM: 600570

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CLCN2 PubMed Links

Gene Details

Gene

CLCN2

Gene Name

chloride voltage-gated channel 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171087.2	2683	Silent Mutation	CTC,CTT	L837L	NP_001164558.1
NM_001171088.2	2683	Silent Mutation	CTC,CTT	L810L	NP_001164559.1
NM_001171089.2	2683	Silent Mutation	CTC,CTT	L825L	NP_001164560.1
NM_004366.5	2683	Silent Mutation	CTC,CTT	L854L	NP_004357.3
XM_006713489.1	2683	Silent Mutation	CTC,CTT	L819L	XP_006713552.1
XM_006713490.2	2683	Silent Mutation	CTC,CTT	L468L	XP_006713553.1
XM_011512401.1	2683	Intron			XP_011510703.1

Gene

FAM131A

Gene Name

family with sequence similarity 131 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171093.1	2683	Intron			NP_001164564.1
NM_144635.4	2683	Intron			NP_653236.3
XM_005247113.2	2683	Intron			XP_005247170.1
XM_005247114.3	2683	Intron			XP_005247171.1
XM_011512413.2	2683	Intron			XP_011510715.1

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