Product Details

SNP ID

rs200636100

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:122698338 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAGGTAGCAGTTGTGACAATCACA[A/G]AAGAGACCAAATAGTGATTCATCCA

Phenotype

MIM: 609978

Polymorphism

A/G, Transition 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	817	Intron			NP_001009571.2
NM_001167940.1	817	Intron			NP_001161412.1
NM_017954.10	817	Intron			NP_060424.9
XM_005250695.4	817	Intron			XP_005250752.1
XM_005250696.4	817	Intron			XP_005250753.1
XM_005250697.4	817	Intron			XP_005250754.1
XM_005250698.4	817	Intron			XP_005250755.1
XM_005250699.4	817	Intron			XP_005250756.1
XM_005250700.4	817	Intron			XP_005250757.1
XM_005250701.4	817	Intron			XP_005250758.1
XM_005250702.4	817	Intron			XP_005250759.1
XM_005250703.4	817	Intron			XP_005250760.1
XM_005250704.4	817	Intron			XP_005250761.1
XM_005250705.4	817	Intron			XP_005250762.1
XM_005250706.4	817	Intron			XP_005250763.1
XM_005250707.4	817	Intron			XP_005250764.1
XM_005250708.3	817	Intron			XP_005250765.1
XM_011516695.2	817	Intron			XP_011514997.1
XM_011516696.2	817	Intron			XP_011514998.1
XM_011516697.2	817	Intron			XP_011514999.1
XM_017012794.1	817	Intron			XP_016868283.1
XM_017012795.1	817	Intron			XP_016868284.1
XM_017012796.1	817	Intron			XP_016868285.1
XM_017012797.1	817	Intron			XP_016868286.1
XM_017012798.1	817	Intron			XP_016868287.1
XM_017012799.1	817	Intron			XP_016868288.1
XM_017012800.1	817	Intron			XP_016868289.1

Gene

RNF133

Gene Name

ring finger protein 133

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_139175.1	817	Missense Mutation	TCT,TTT	S194F	NP_631914.1

Gene

RNF148

Gene Name

ring finger protein 148

There are no transcripts associated with this gene.

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