Product Details

SNP ID

rs140875641

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:92201345 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTATAAAGCTCATTTTATTTTCCA[C/T]GCTATGGATCTGAAAACAAGTATCA

Phenotype

MIM: 604214

Polymorphism

C/T, 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_001013406.1	2843	Missense Mutation	ATG,GTG	M654V	NP_001013424.1
NM_004912.3	2843	Missense Mutation	ATG,GTG	M702V	NP_004903.2
NM_194454.1	2843	Missense Mutation	ATG,GTG	M702V	NP_919436.1
NM_194455.1	2843	Missense Mutation	ATG,GTG	M702V	NP_919437.1
NM_194456.1	2843	Missense Mutation	ATG,GTG	M702V	NP_919438.1
XM_005250660.3	2843	Missense Mutation	ATG,GTG	M702V	XP_005250717.1
XM_005250662.3	2843	Missense Mutation	ATG,GTG	M702V	XP_005250719.1
XM_005250665.3	2843	Missense Mutation	ATG,GTG	M702V	XP_005250722.1
XM_005250666.3	2843	Missense Mutation	ATG,GTG	M702V	XP_005250723.1
XM_005250667.2	2843	Missense Mutation	ATG,GTG	M702V	XP_005250724.1
XM_005250668.3	2843	Missense Mutation	ATG,GTG	M702V	XP_005250725.1
XM_005250669.3	2843	Missense Mutation	ATG,GTG	M702V	XP_005250726.1
XM_006716161.3	2843	Missense Mutation	ATG,GTG	M702V	XP_006716224.1
XM_006716162.3	2843	Missense Mutation	ATG,GTG	M702V	XP_006716225.1
XM_006716163.3	2843	Missense Mutation	ATG,GTG	M702V	XP_006716226.1
XM_011516651.2	2843	Missense Mutation	ATG,GTG	M702V	XP_011514953.1
XM_011516653.2	2843	Missense Mutation	ATG,GTG	M702V	XP_011514955.1
XM_011516654.2	2843	Missense Mutation	ATG,GTG	M702V	XP_011514956.1
XM_011516655.2	2843	Missense Mutation	ATG,GTG	M702V	XP_011514957.1
XM_011516656.2	2843	Missense Mutation	ATG,GTG	M702V	XP_011514958.1
XM_011516657.2	2843	Missense Mutation	ATG,GTG	M702V	XP_011514959.1
XM_011516658.2	2843	Missense Mutation	ATG,GTG	M702V	XP_011514960.1
XM_011516659.2	2843	Missense Mutation	ATG,GTG	M702V	XP_011514961.1
XM_011516660.2	2843	Missense Mutation	ATG,GTG	M702V	XP_011514962.1
XM_011516661.2	2843	Missense Mutation	ATG,GTG	M702V	XP_011514963.1
XM_017012755.1	2843	Missense Mutation	ATG,GTG	M702V	XP_016868244.1
XM_017012756.1	2843	Missense Mutation	ATG,GTG	M702V	XP_016868245.1
XM_017012757.1	2843	Missense Mutation	ATG,GTG	M702V	XP_016868246.1
XM_017012758.1	2843	Missense Mutation	ATG,GTG	M464V	XP_016868247.1
XM_017012759.1	2843	Missense Mutation	ATG,GTG	M464V	XP_016868248.1

Gene

MIR1285-1

Gene Name

microRNA 1285-1

There are no transcripts associated with this gene.

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