Product Details

SNP ID

rs201887461

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75501116 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCGTCCAGCTGGTCAGCCAGGGC[A/G]TCGAACATGGTGCTGATGTCATCCA

Phenotype

MIM: 612185

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CASKIN2 PubMed Links

Gene Details

Gene

CASKIN2

Gene Name

CASK interacting protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142643.2	4160	Silent Mutation	GAC,GAT	D1109D	NP_001136115.1
NM_020753.4	4160	Silent Mutation	GAC,GAT	D1191D	NP_065804.2

Gene

MIR6785

Gene Name

microRNA 6785

There are no transcripts associated with this gene.

Gene

TMEM94

Gene Name

transmembrane protein 94

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321148.1	4160	Intron			NP_001308077.1
NM_001321149.1	4160	Intron			NP_001308078.1
NM_014738.5	4160	Intron			NP_055553.3
XM_005257864.2	4160	Intron			XP_005257921.1
XM_011525514.1	4160	Intron			XP_011523816.1
XM_011525515.1	4160	Intron			XP_011523817.1
XM_011525516.1	4160	Intron			XP_011523818.1
XM_011525517.1	4160	Intron			XP_011523819.1
XM_011525519.1	4160	Intron			XP_011523821.1
XM_011525520.2	4160	Intron			XP_011523822.1
XM_011525521.1	4160	Intron			XP_011523823.1
XM_017025433.1	4160	Intron			XP_016880922.1
XM_017025434.1	4160	Intron			XP_016880923.1
XM_017025435.1	4160	Intron			XP_016880924.1
XM_017025436.1	4160	Intron			XP_016880925.1
XM_017025437.1	4160	Intron			XP_016880926.1
XM_017025438.1	4160	Intron			XP_016880927.1
XM_017025439.1	4160	Intron			XP_016880928.1
XM_017025440.1	4160	Intron			XP_016880929.1
XM_017025441.1	4160	Intron			XP_016880930.1
XM_017025442.1	4160	Intron			XP_016880931.1
XM_017025443.1	4160	Intron			XP_016880932.1
XM_017025444.1	4160	Intron			XP_016880933.1
XM_017025445.1	4160	Intron			XP_016880934.1
XM_017025446.1	4160	Intron			XP_016880935.1
XM_017025447.1	4160	Intron			XP_016880936.1
XM_017025448.1	4160	Intron			XP_016880937.1
XM_017025449.1	4160	Intron			XP_016880938.1
XM_017025450.1	4160	Intron			XP_016880939.1

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