Product Details

SNP ID

rs150248985

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:89628507 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGACAAAGGCCCAAAGTTCCAG[A/G]GCAGGCCTGCCTCACCCACAGGAAG

Phenotype

MIM: 611254 MIM: 613298

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KIF7 PubMed Links

Gene Details

Gene

KIF7

Gene Name

kinesin family member 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198525.2	4021	Missense Mutation	CCC,CTC	P1315L	NP_940927.2
XM_011521531.2	4021	Missense Mutation	CCC,CTC	P1356L	XP_011519833.1

Gene

TICRR

Gene Name

TOPBP1 interacting checkpoint and replication regulator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308025.1	4021	Intron			NP_001294954.1
NM_152259.3	4021	Intron			NP_689472.3

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