Product Details

SNP ID

rs200354548

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:29807820 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAACTGCTCCCACTGTGGCAAGAG[C/T]TTCTCCCGGTGTGCACGGGGCCTCG

Phenotype

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

Polymorphism

C/T, Transition 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	1015	Silent Mutation	AGC,AGT	S345S	NP_001036004.1
NM_001276275.1	1015	Silent Mutation	AGC,AGT	S322S	NP_001263204.1
NM_001276276.1	1015	Intron			NP_001263205.1
NM_002383.3	1015	Silent Mutation	AGC,AGT	S345S	NP_002374.2
XM_006721047.3	1015	Silent Mutation	AGC,AGT	S322S	XP_006721110.1
XM_006721048.3	1015	Silent Mutation	AGC,AGT	S345S	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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