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SNP ID

rs144102132

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:119690414 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCTGGAGGCCACGCGCTTGGTGA[C/T]GTGCTCGTTGTACGTGGGTGGGCCT

Phenotype

MIM: 605629 MIM: 602740

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CIT PubMed Links

Gene Details

Gene

CIT

Gene Name

citron rho-interacting serine/threonine kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206999.1	6003	Missense Mutation	ATC,GTC	I1975V	NP_001193928.1
NM_007174.2	6003	Missense Mutation	ATC,GTC	I1933V	NP_009105.1
XM_006719206.2	6003	Missense Mutation	ATC,GTC	I1960V	XP_006719269.1
XM_011537783.1	6003	Missense Mutation	ATC,GTC	I1990V	XP_011536085.1
XM_011537784.1	6003	Missense Mutation	ATC,GTC	I1989V	XP_011536086.1
XM_011537785.1	6003	Missense Mutation	ATC,GTC	I1975V	XP_011536087.1
XM_011537787.1	6003	Missense Mutation	ATC,GTC	I1918V	XP_011536089.1
XM_011537788.1	6003	Missense Mutation	ATC,GTC	I1917V	XP_011536090.1
XM_011537789.1	6003	Missense Mutation	ATC,GTC	I1544V	XP_011536091.1
XM_011537790.2	6003	Missense Mutation	ATC,GTC	I1544V	XP_011536092.1
XM_011537791.2	6003	Missense Mutation	ATC,GTC	I1524V	XP_011536093.1
XM_011537792.2	6003	Missense Mutation	ATC,GTC	I1451V	XP_011536094.1
XM_017018735.1	6003	Missense Mutation	ATC,GTC	I1974V	XP_016874224.1
XM_017018736.1	6003	Missense Mutation	ATC,GTC	I1974V	XP_016874225.1
XM_017018737.1	6003	Missense Mutation	ATC,GTC	I1959V	XP_016874226.1
XM_017018738.1	6003	Missense Mutation	ATC,GTC	I1482V	XP_016874227.1
XM_017018739.1	6003	Missense Mutation	ATC,GTC	I1451V	XP_016874228.1

Gene

PRKAB1

Gene Name

protein kinase AMP-activated non-catalytic subunit beta 1

There are no transcripts associated with this gene.

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