Product Details

SNP ID

rs140072597

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:92213315 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGTCCTGTGAAAAATGCTGCTCC[A/G]TAAGTAGGAATTTCCCAGCAATTCT

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_001013406.1	2644	Silent Mutation	TAC,TAT	Y587Y	NP_001013424.1
NM_004912.3	2644	Silent Mutation	TAC,TAT	Y635Y	NP_004903.2
NM_194454.1	2644	Silent Mutation	TAC,TAT	Y635Y	NP_919436.1
NM_194455.1	2644	Silent Mutation	TAC,TAT	Y635Y	NP_919437.1
NM_194456.1	2644	Silent Mutation	TAC,TAT	Y635Y	NP_919438.1
XM_005250660.3	2644	Silent Mutation	TAC,TAT	Y635Y	XP_005250717.1
XM_005250662.3	2644	Silent Mutation	TAC,TAT	Y635Y	XP_005250719.1
XM_005250665.3	2644	Silent Mutation	TAC,TAT	Y635Y	XP_005250722.1
XM_005250666.3	2644	Silent Mutation	TAC,TAT	Y635Y	XP_005250723.1
XM_005250667.2	2644	Silent Mutation	TAC,TAT	Y635Y	XP_005250724.1
XM_005250668.3	2644	Silent Mutation	TAC,TAT	Y635Y	XP_005250725.1
XM_005250669.3	2644	Silent Mutation	TAC,TAT	Y635Y	XP_005250726.1
XM_006716161.3	2644	Silent Mutation	TAC,TAT	Y635Y	XP_006716224.1
XM_006716162.3	2644	Silent Mutation	TAC,TAT	Y635Y	XP_006716225.1
XM_006716163.3	2644	Silent Mutation	TAC,TAT	Y635Y	XP_006716226.1
XM_011516651.2	2644	Silent Mutation	TAC,TAT	Y635Y	XP_011514953.1
XM_011516653.2	2644	Silent Mutation	TAC,TAT	Y635Y	XP_011514955.1
XM_011516654.2	2644	Silent Mutation	TAC,TAT	Y635Y	XP_011514956.1
XM_011516655.2	2644	Silent Mutation	TAC,TAT	Y635Y	XP_011514957.1
XM_011516656.2	2644	Silent Mutation	TAC,TAT	Y635Y	XP_011514958.1
XM_011516657.2	2644	Silent Mutation	TAC,TAT	Y635Y	XP_011514959.1
XM_011516658.2	2644	Silent Mutation	TAC,TAT	Y635Y	XP_011514960.1
XM_011516659.2	2644	Silent Mutation	TAC,TAT	Y635Y	XP_011514961.1
XM_011516660.2	2644	Silent Mutation	TAC,TAT	Y635Y	XP_011514962.1
XM_011516661.2	2644	Silent Mutation	TAC,TAT	Y635Y	XP_011514963.1
XM_017012755.1	2644	Silent Mutation	TAC,TAT	Y635Y	XP_016868244.1
XM_017012756.1	2644	Silent Mutation	TAC,TAT	Y635Y	XP_016868245.1
XM_017012757.1	2644	Silent Mutation	TAC,TAT	Y635Y	XP_016868246.1
XM_017012758.1	2644	Silent Mutation	TAC,TAT	Y397Y	XP_016868247.1
XM_017012759.1	2644	Silent Mutation	TAC,TAT	Y397Y	XP_016868248.1

Gene

MIR1285-1

Gene Name

microRNA 1285-1

There are no transcripts associated with this gene.

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