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SNP ID

rs146668214

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:37057448 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGCAGTGCCAGGAGGAGGAGCT[C/T]ACGCAAATGGTCTCCACCATGTCTG

Phenotype

MIM: 616386 MIM: 609862

Polymorphism

C/T, Transition 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	477	Silent Mutation	CTC,CTT	L154L	NP_001269613.1
NM_001282685.1	477	Silent Mutation	CTC,CTT	L154L	NP_001269614.1
NM_001282686.1	477	Silent Mutation	CTC,CTT	L154L	NP_001269615.1
NM_024681.3	477	Silent Mutation	CTC,CTT	L154L	NP_078957.2
XM_005261741.3	477	Silent Mutation	CTC,CTT	L154L	XP_005261798.2
XM_005261742.2	477	Silent Mutation	CTC,CTT	L154L	XP_005261799.2
XM_005261743.2	477	Silent Mutation	CTC,CTT	L154L	XP_005261800.2
XM_005261744.2	477	Silent Mutation	CTC,CTT	L154L	XP_005261801.1
XM_011530374.2	477	Silent Mutation	CTC,CTT	L154L	XP_011528676.1
XM_011530377.2	477	Silent Mutation	CTC,CTT	L154L	XP_011528679.1

Gene

TMPRSS6

Gene Name

transmembrane protease, serine 6

There are no transcripts associated with this gene.

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