Product Details

SNP ID

rs201207694

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:92213206 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGAAAATCTACCTTAGTTTCCA[C/T]GTTGAGGAGATGAAGTCCTTTTATA

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	2753	Missense Mutation			NP_001013424.1
NM_004912.3	2753	Missense Mutation			NP_004903.2
NM_194454.1	2753	Missense Mutation			NP_919436.1
NM_194455.1	2753	Missense Mutation			NP_919437.1
NM_194456.1	2753	Missense Mutation			NP_919438.1
XM_005250660.3	2753	Missense Mutation			XP_005250717.1
XM_005250662.3	2753	Missense Mutation			XP_005250719.1
XM_005250665.3	2753	Missense Mutation			XP_005250722.1
XM_005250666.3	2753	Missense Mutation			XP_005250723.1
XM_005250667.2	2753	Missense Mutation			XP_005250724.1
XM_005250668.3	2753	Missense Mutation			XP_005250725.1
XM_005250669.3	2753	Missense Mutation			XP_005250726.1
XM_006716161.3	2753	Missense Mutation			XP_006716224.1
XM_006716162.3	2753	Missense Mutation			XP_006716225.1
XM_006716163.3	2753	Missense Mutation			XP_006716226.1
XM_011516651.2	2753	Missense Mutation			XP_011514953.1
XM_011516653.2	2753	Missense Mutation			XP_011514955.1
XM_011516654.2	2753	Missense Mutation			XP_011514956.1
XM_011516655.2	2753	Missense Mutation			XP_011514957.1
XM_011516656.2	2753	Missense Mutation			XP_011514958.1
XM_011516657.2	2753	Missense Mutation			XP_011514959.1
XM_011516658.2	2753	Missense Mutation			XP_011514960.1
XM_011516659.2	2753	Missense Mutation			XP_011514961.1
XM_011516660.2	2753	Missense Mutation			XP_011514962.1
XM_011516661.2	2753	Missense Mutation			XP_011514963.1
XM_017012755.1	2753	Missense Mutation			XP_016868244.1
XM_017012756.1	2753	Missense Mutation			XP_016868245.1
XM_017012757.1	2753	Missense Mutation			XP_016868246.1
XM_017012758.1	2753	Missense Mutation			XP_016868247.1
XM_017012759.1	2753	Missense Mutation			XP_016868248.1

Gene

MIR1285-1

Gene Name

microRNA 1285-1

There are no transcripts associated with this gene.

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