Product Details

SNP ID

rs11542756

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:37056394 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCAAAGACCGGATGGAAGAGAAG[C/G]ACTACACGGTCACCCAGGTCGGGAG

Phenotype

MIM: 616386 MIM: 609862

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KCTD17 PubMed Links

Gene Details

Gene

KCTD17

Gene Name

potassium channel tetramerization domain containing 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282684.1	409	Missense Mutation	CAC,GAC	H132D	NP_001269613.1
NM_001282685.1	409	Missense Mutation	CAC,GAC	H132D	NP_001269614.1
NM_001282686.1	409	Missense Mutation	CAC,GAC	H132D	NP_001269615.1
NM_024681.3	409	Missense Mutation	CAC,GAC	H132D	NP_078957.2
XM_005261741.3	409	Missense Mutation	CAC,GAC	H132D	XP_005261798.2
XM_005261742.2	409	Missense Mutation	CAC,GAC	H132D	XP_005261799.2
XM_005261743.2	409	Missense Mutation	CAC,GAC	H132D	XP_005261800.2
XM_005261744.2	409	Missense Mutation	CAC,GAC	H132D	XP_005261801.1
XM_011530374.2	409	Missense Mutation	CAC,GAC	H132D	XP_011528676.1
XM_011530377.2	409	Missense Mutation	CAC,GAC	H132D	XP_011528679.1

Gene

TMPRSS6

Gene Name

transmembrane protease, serine 6

There are no transcripts associated with this gene.

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