Product Details

SNP ID

rs200165834

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:151176714 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGAGGGGCTCAGGAGGTGGCGGG[C/T]CGGGGCCCAGGGCTGAGGCAGTGGG

Phenotype

MIM: 608095 MIM: 605834 MIM: 600607

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SCNM1 PubMed Links

Gene Details

Gene

SCNM1

Gene Name

sodium channel modifier 1

There are no transcripts associated with this gene.

Gene

TMOD4

Gene Name

tropomodulin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013353.2	1117	Intron			NP_037485.2
XM_011509449.1	1117	Intron			XP_011507751.1
XM_017001089.1	1117	Intron			XP_016856578.1
XM_017001090.1	1117	Intron			XP_016856579.1

Gene

TNFAIP8L2-SCNM1

Gene Name

TNFAIP8L2-SCNM1 readthrough

There are no transcripts associated with this gene.

Gene

VPS72

Gene Name

vacuolar protein sorting 72 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271087.1	1117	Missense Mutation	GAC,GGC	D353G	NP_001258016.1
NM_001271088.1	1117	UTR 3			NP_001258017.1
NM_005997.2	1117	Missense Mutation	GAC,GGC	D342G	NP_005988.1
XM_017002205.1	1117	Missense Mutation	GAC,GGC	D221G	XP_016857694.1

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