Product Details

SNP ID

rs200546806

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:22987331 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCATTCTCATCCCCTCCCTCATCTT[C/T]CTCTTCTTGGAAATTAGGATTGTAA

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	1680	Missense Mutation	AAA,GAA	K501E	NP_001124178.1
NM_001130708.2	1680	Missense Mutation	AAA,GAA	K501E	NP_001124180.1
NM_001282968.1	1680	Missense Mutation	AAA,GAA	K321E	NP_001269897.1
NM_001282969.1	1680	Missense Mutation	AAA,GAA	K321E	NP_001269898.1
NM_001282970.1	1680	Missense Mutation	AAA,GAA	K461E	NP_001269899.1
NM_021944.3	1680	Missense Mutation	AAA,GAA	K501E	NP_068763.2
XM_005267971.1	1680	Missense Mutation	AAA,GAA	K501E	XP_005268028.1
XM_005267972.1	1680	Missense Mutation	AAA,GAA	K501E	XP_005268029.1
XM_006720231.1	1680	Missense Mutation	AAA,GAA	K321E	XP_006720294.1
XM_006720232.2	1680	Missense Mutation	AAA,GAA	K321E	XP_006720295.1
XM_011537059.1	1680	Missense Mutation	AAA,GAA	K501E	XP_011535361.1
XM_011537060.2	1680	Missense Mutation	AAA,GAA	K501E	XP_011535362.1
XM_011537062.1	1680	Missense Mutation	AAA,GAA	K501E	XP_011535364.1
XM_017021569.1	1680	Missense Mutation	AAA,GAA	K501E	XP_016877058.1
XM_017021570.1	1680	Missense Mutation	AAA,GAA	K501E	XP_016877059.1
XM_017021571.1	1680	Missense Mutation	AAA,GAA	K501E	XP_016877060.1
XM_017021572.1	1680	Missense Mutation	AAA,GAA	K501E	XP_016877061.1
XM_017021573.1	1680	Missense Mutation	AAA,GAA	K501E	XP_016877062.1
XM_017021574.1	1680	Missense Mutation	AAA,GAA	K501E	XP_016877063.1
XM_017021575.1	1680	Missense Mutation	AAA,GAA	K321E	XP_016877064.1
XM_017021576.1	1680	Missense Mutation	AAA,GAA	K321E	XP_016877065.1
XM_017021577.1	1680	Missense Mutation	AAA,GAA	K321E	XP_016877066.1

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