Product Details

SNP ID

rs143785213

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81191031 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACCGCTCCTGAAGCTTCCGCTCC[A/G]ACTGCTCCAGCTCGGAGAGCTCGGC

Phenotype

MIM: 613479

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AATK-AS1 PubMed Links

Gene Details

Gene

AATK-AS1

Gene Name

AATK antisense RNA 1

There are no transcripts associated with this gene.

Gene

CEP131

Gene Name

centrosomal protein 131

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009811.3	3072	Missense Mutation	TCG,TTG	S904L	NP_001009811.2
NM_001319228.1	3072	Missense Mutation	TCG,TTG	S943L	NP_001306157.1
NM_001319229.1	3072	Missense Mutation	TCG,TTG	S907L	NP_001306158.1
NM_014984.3	3072	Missense Mutation	TCG,TTG	S940L	NP_055799.2
XM_011524547.2	3072	Missense Mutation	TCG,TTG	S948L	XP_011522849.1
XM_011524548.2	3072	Missense Mutation	TCG,TTG	S945L	XP_011522850.1
XM_011524550.2	3072	Missense Mutation	TCG,TTG	S942L	XP_011522852.1
XM_011524551.2	3072	Missense Mutation	TCG,TTG	S948L	XP_011522853.1
XM_011524552.2	3072	Missense Mutation	TCG,TTG	S912L	XP_011522854.1
XM_011524553.2	3072	Missense Mutation	TCG,TTG	S907L	XP_011522855.1
XM_011524555.2	3072	Missense Mutation	TCG,TTG	S948L	XP_011522857.1
XM_017024369.1	3072	Missense Mutation	TCG,TTG	S943L	XP_016879858.1

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