Product Details

SNP ID

rs201544800

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:22987430 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGCCCATACACACGGTTGGCTT[C/T]GGTGCCATGCTTAGAGTTAGCATCC

Phenotype

MIM: 609066

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AJUBA PubMed Links

Gene Details

Gene

AJUBA

Gene Name

ajuba LIM protein

There are no transcripts associated with this gene.

Gene

C14orf93

Gene Name

chromosome 14 open reading frame 93

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130706.2	1581	Missense Mutation	AAA,GAA	K468E	NP_001124178.1
NM_001130708.2	1581	Missense Mutation	AAA,GAA	K468E	NP_001124180.1
NM_001282968.1	1581	Missense Mutation	AAA,GAA	K288E	NP_001269897.1
NM_001282969.1	1581	Missense Mutation	AAA,GAA	K288E	NP_001269898.1
NM_001282970.1	1581	Intron			NP_001269899.1
NM_021944.3	1581	Missense Mutation	AAA,GAA	K468E	NP_068763.2
XM_005267971.1	1581	Missense Mutation	AAA,GAA	K468E	XP_005268028.1
XM_005267972.1	1581	Missense Mutation	AAA,GAA	K468E	XP_005268029.1
XM_006720231.1	1581	Missense Mutation	AAA,GAA	K288E	XP_006720294.1
XM_006720232.2	1581	Missense Mutation	AAA,GAA	K288E	XP_006720295.1
XM_011537059.1	1581	Missense Mutation	AAA,GAA	K468E	XP_011535361.1
XM_011537060.2	1581	Missense Mutation	AAA,GAA	K468E	XP_011535362.1
XM_011537062.1	1581	Missense Mutation	AAA,GAA	K468E	XP_011535364.1
XM_017021569.1	1581	Missense Mutation	AAA,GAA	K468E	XP_016877058.1
XM_017021570.1	1581	Missense Mutation	AAA,GAA	K468E	XP_016877059.1
XM_017021571.1	1581	Missense Mutation	AAA,GAA	K468E	XP_016877060.1
XM_017021572.1	1581	Missense Mutation	AAA,GAA	K468E	XP_016877061.1
XM_017021573.1	1581	Missense Mutation	AAA,GAA	K468E	XP_016877062.1
XM_017021574.1	1581	Missense Mutation	AAA,GAA	K468E	XP_016877063.1
XM_017021575.1	1581	Missense Mutation	AAA,GAA	K288E	XP_016877064.1
XM_017021576.1	1581	Missense Mutation	AAA,GAA	K288E	XP_016877065.1
XM_017021577.1	1581	Missense Mutation	AAA,GAA	K288E	XP_016877066.1

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