Product Details

SNP ID

rs150450224

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:122701909 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCCAGGGGTCAATGCATGCCTTA[A/T]GGAAAAAATGTTTGCAAGTTAAAAT

Phenotype

MIM: 609978

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CADPS2 PubMed Links

Gene Details

Gene

CADPS2

Gene Name

calcium dependent secretion activator 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009571.3	1059	Intron			NP_001009571.2
NM_001167940.1	1059	Intron			NP_001161412.1
NM_017954.10	1059	Intron			NP_060424.9
XM_005250695.4	1059	Intron			XP_005250752.1
XM_005250696.4	1059	Intron			XP_005250753.1
XM_005250697.4	1059	Intron			XP_005250754.1
XM_005250698.4	1059	Intron			XP_005250755.1
XM_005250699.4	1059	Intron			XP_005250756.1
XM_005250700.4	1059	Intron			XP_005250757.1
XM_005250701.4	1059	Intron			XP_005250758.1
XM_005250702.4	1059	Intron			XP_005250759.1
XM_005250703.4	1059	Intron			XP_005250760.1
XM_005250704.4	1059	Intron			XP_005250761.1
XM_005250705.4	1059	Intron			XP_005250762.1
XM_005250706.4	1059	Intron			XP_005250763.1
XM_005250707.4	1059	Intron			XP_005250764.1
XM_005250708.3	1059	Intron			XP_005250765.1
XM_011516695.2	1059	Intron			XP_011514997.1
XM_011516696.2	1059	Intron			XP_011514998.1
XM_011516697.2	1059	Intron			XP_011514999.1
XM_017012794.1	1059	Intron			XP_016868283.1
XM_017012795.1	1059	Intron			XP_016868284.1
XM_017012796.1	1059	Intron			XP_016868285.1
XM_017012797.1	1059	Intron			XP_016868286.1
XM_017012798.1	1059	Intron			XP_016868287.1
XM_017012799.1	1059	Intron			XP_016868288.1
XM_017012800.1	1059	Intron			XP_016868289.1

Gene

RNF133

Gene Name

ring finger protein 133

There are no transcripts associated with this gene.

Gene

RNF148

Gene Name

ring finger protein 148

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198085.1	1059	Missense Mutation	CAT,CTT	H281L	NP_932351.1

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