Product Details

SNP ID

rs200093185

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:241229840 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAAGCCCGCATCTGACCTTCTCA[C/T]TGCTGCTGGCGGTCCAGGGTGCGTC

Phenotype

MIM: 605096 MIM: 142695

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ANO7 PubMed Links

Gene Details

Gene

ANO7

Gene Name

anoctamin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001666.3	3941	Intron			NP_001001666.1
NM_001001891.3	3941	Intron			NP_001001891.2
XM_011511263.2	3941	Intron			XP_011509565.1
XM_011511267.2	3941	Intron			XP_011509569.1
XM_017004229.1	3941	Intron			XP_016859718.1
XM_017004230.1	3941	Intron			XP_016859719.1

Gene

HDLBP

Gene Name

high density lipoprotein binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243900.2	3941	Missense Mutation	AAT,AGT	N1205S	NP_001230829.1
NM_001320965.1	3941	Missense Mutation	AAT,AGT	N1238S	NP_001307894.1
NM_001320966.1	3941	Missense Mutation	AAT,AGT	N1238S	NP_001307895.1
NM_001320967.1	3941	Missense Mutation	AAT,AGT	N1238S	NP_001307896.1
NM_005336.5	3941	Missense Mutation	AAT,AGT	N1238S	NP_005327.1
NM_203346.4	3941	Missense Mutation	AAT,AGT	N1238S	NP_976221.1
XM_005247002.3	3941	Missense Mutation	AAT,AGT	N1238S	XP_005247059.2
XM_005247003.4	3941	Missense Mutation	AAT,AGT	N1238S	XP_005247060.2
XM_006712475.3	3941	Missense Mutation	AAT,AGT	N1238S	XP_006712538.1
XM_011511058.2	3941	Missense Mutation	AAT,AGT	N1238S	XP_011509360.1
XM_011511060.2	3941	Missense Mutation	AAT,AGT	N1238S	XP_011509362.1
XM_017003940.1	3941	Missense Mutation	AAT,AGT	N1238S	XP_016859429.1
XM_017003941.1	3941	Missense Mutation	AAT,AGT	N1238S	XP_016859430.1
XM_017003942.1	3941	Missense Mutation	AAT,AGT	N1238S	XP_016859431.1

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