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SNP ID

rs189244040

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:50607639 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAAGGGGTACTGTCGGAGGTAGT[C/T]GGCCATGCGCCGGGGCAGTGGCAGG

Phenotype

MIM: 602441 MIM: 602130

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CISH PubMed Links

Gene Details

Gene

CISH

Gene Name

cytokine inducible SH2 containing protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013324.5	3748	Missense Mutation	AAC,GAC	N266D	NP_037456.5
NM_145071.2	3748	Missense Mutation	AAC,GAC	N249D	NP_659508.1
XM_011533329.2	3748	Missense Mutation	AAC,GAC	N255D	XP_011531631.1

Gene

MAPKAPK3

Gene Name

mitogen-activated protein kinase-activated protein kinase 3

There are no transcripts associated with this gene.

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