Product Details

SNP ID

rs150671549

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:69054039 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTCCCCTCTGCCTGCAGGTGCCG[C/T]GGCCAGGTGGGACCTCTGCATTGAT

Phenotype

MIM: 612163

Polymorphism

C/T, Transition 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	236	Missense Mutation	GCG,GTG	A39V	NP_620714.2
XM_005273824.3	236	Missense Mutation	GCG,GTG	A39V	XP_005273881.1
XM_005273826.3	236	Missense Mutation	GCG,GTG	A39V	XP_005273883.1
XM_005273830.3	236	UTR 5			XP_005273887.1
XM_005273831.3	236	UTR 5			XP_005273888.1
XM_005273832.3	236	UTR 5			XP_005273889.1
XM_011544802.2	236	UTR 5			XP_011543104.1
XM_011544805.1	236	Missense Mutation	GCG,GTG	A39V	XP_011543107.1
XM_011544806.1	236	Missense Mutation	GCG,GTG	A39V	XP_011543108.1
XM_011544807.2	236	UTR 5			XP_011543109.1
XM_011544808.2	236	UTR 5			XP_011543110.1
XM_017017328.1	236	Missense Mutation	GCG,GTG	A39V	XP_016872817.1
XM_017017329.1	236	Missense Mutation	GCG,GTG	A39V	XP_016872818.1
XM_017017330.1	236	UTR 5			XP_016872819.1
XM_017017331.1	236	Intron			XP_016872820.1
XM_017017332.1	236	UTR 5			XP_016872821.1
XM_017017333.1	236	UTR 5			XP_016872822.1
XM_017017334.1	236	UTR 5			XP_016872823.1
XM_017017335.1	236	Intron			XP_016872824.1
XM_017017336.1	236	Intron			XP_016872825.1

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