Product Details

SNP ID

hCV14902

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:92213341 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAGTAGGAATTTCCCAGCAATTCT[A/G]TAAGAACATGCGCTGAAGGTGATGC

Phenotype

MIM: 604214

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KRIT1 PubMed Links

Gene Details

Gene

KRIT1

Gene Name

KRIT1, ankyrin repeat containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_194455.1	2898	Nonsense Mutation	CAG,TAG	Q627*	NP_919437.1
NM_194456.1	2898	Nonsense Mutation	CAG,TAG	Q627*	NP_919438.1

Gene

MIR1285-1

Gene Name

microRNA 1285-1

There are no transcripts associated with this gene.

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