Product Details

SNP ID

rs201080187

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:29808686 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGAGCTCGGCTTATATTTCGGA[C/G]CACATGAAGGTGCACAGCCAGGGTC

Phenotype

MIM: 603213 MIM: 600999 MIM: 612033 MIM: 614386

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KIF22 PubMed Links

Gene Details

Gene

KIF22

Gene Name

kinesin family member 22

There are no transcripts associated with this gene.

Gene

MAZ

Gene Name

MYC associated zinc finger protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042539.2	1204	Missense Mutation	GAC,GAG	D408E	NP_001036004.1
NM_001276275.1	1204	Missense Mutation	GAC,GAG	D385E	NP_001263204.1
NM_001276276.1	1204	Missense Mutation	GAC,GAG	D103E	NP_001263205.1
NM_002383.3	1204	Missense Mutation	GAC,GAG	D408E	NP_002374.2
XM_006721047.3	1204	Missense Mutation	GAC,GAG	D385E	XP_006721110.1
XM_006721048.3	1204	Intron			XP_006721111.1

Gene

PAGR1

Gene Name

PAXIP1 associated glutamate rich protein 1

There are no transcripts associated with this gene.

Gene

PRRT2

Gene Name

proline rich transmembrane protein 2

There are no transcripts associated with this gene.

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