Product Details

SNP ID

rs144833208

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:69054090 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCTGTGGTCTTCATCGAAGATG[C/G]TATTCAGGTCGGTGGCACCTGCTCC

Phenotype

MIM: 612163

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

TPCN2 PubMed Links

Gene Details

Gene

TPCN2

Gene Name

two pore segment channel 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_139075.3	287	Missense Mutation	GCT,GGT	A56G	NP_620714.2
XM_005273824.3	287	Missense Mutation	GCT,GGT	A56G	XP_005273881.1
XM_005273826.3	287	Missense Mutation	GCT,GGT	A56G	XP_005273883.1
XM_005273830.3	287	UTR 5			XP_005273887.1
XM_005273831.3	287	UTR 5			XP_005273888.1
XM_005273832.3	287	UTR 5			XP_005273889.1
XM_011544802.2	287	Missense Mutation	CTA,GTA	L2V	XP_011543104.1
XM_011544805.1	287	Missense Mutation	GCT,GGT	A56G	XP_011543107.1
XM_011544806.1	287	Missense Mutation	GCT,GGT	A56G	XP_011543108.1
XM_011544807.2	287	UTR 5			XP_011543109.1
XM_011544808.2	287	UTR 5			XP_011543110.1
XM_017017328.1	287	Missense Mutation	GCT,GGT	A56G	XP_016872817.1
XM_017017329.1	287	Missense Mutation	GCT,GGT	A56G	XP_016872818.1
XM_017017330.1	287	UTR 5			XP_016872819.1
XM_017017331.1	287	Intron			XP_016872820.1
XM_017017332.1	287	UTR 5			XP_016872821.1
XM_017017333.1	287	UTR 5			XP_016872822.1
XM_017017334.1	287	UTR 5			XP_016872823.1
XM_017017335.1	287	Intron			XP_016872824.1
XM_017017336.1	287	Intron			XP_016872825.1

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