Product Details

SNP ID

rs151059782

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:92200740 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGTAACAGTTACTTCTCTTTCAT[A/G]AATTTCTTTCAGTGGGCATTAACTG

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	2946	Missense Mutation	TCA,TTA	S688L	NP_001013424.1
NM_004912.3	2946	Missense Mutation	TCA,TTA	S736L	NP_004903.2
NM_194454.1	2946	Missense Mutation	TCA,TTA	S736L	NP_919436.1
NM_194455.1	2946	Missense Mutation	TCA,TTA	S736L	NP_919437.1
NM_194456.1	2946	Missense Mutation	TCA,TTA	S736L	NP_919438.1
XM_005250660.3	2946	Missense Mutation	TCA,TTA	S736L	XP_005250717.1
XM_005250662.3	2946	Missense Mutation	TCA,TTA	S736L	XP_005250719.1
XM_005250665.3	2946	Missense Mutation	TCA,TTA	S736L	XP_005250722.1
XM_005250666.3	2946	Missense Mutation	TCA,TTA	S736L	XP_005250723.1
XM_005250667.2	2946	Missense Mutation	TCA,TTA	S736L	XP_005250724.1
XM_005250668.3	2946	Missense Mutation	TCA,TTA	S736L	XP_005250725.1
XM_005250669.3	2946	Missense Mutation	TCA,TTA	S736L	XP_005250726.1
XM_006716161.3	2946	Missense Mutation	TCA,TTA	S736L	XP_006716224.1
XM_006716162.3	2946	Missense Mutation	TCA,TTA	S736L	XP_006716225.1
XM_006716163.3	2946	Missense Mutation	TCA,TTA	S736L	XP_006716226.1
XM_011516651.2	2946	Missense Mutation	TCA,TTA	S736L	XP_011514953.1
XM_011516653.2	2946	Missense Mutation	TCA,TTA	S736L	XP_011514955.1
XM_011516654.2	2946	Missense Mutation	TCA,TTA	S736L	XP_011514956.1
XM_011516655.2	2946	Missense Mutation	TCA,TTA	S736L	XP_011514957.1
XM_011516656.2	2946	Missense Mutation	TCA,TTA	S736L	XP_011514958.1
XM_011516657.2	2946	Missense Mutation	TCA,TTA	S736L	XP_011514959.1
XM_011516658.2	2946	Missense Mutation	TCA,TTA	S736L	XP_011514960.1
XM_011516659.2	2946	Missense Mutation	TCA,TTA	S736L	XP_011514961.1
XM_011516660.2	2946	Missense Mutation	TCA,TTA	S736L	XP_011514962.1
XM_011516661.2	2946	Missense Mutation	TCA,TTA	S736L	XP_011514963.1
XM_017012755.1	2946	Missense Mutation	TCA,TTA	S736L	XP_016868244.1
XM_017012756.1	2946	Missense Mutation	TCA,TTA	S736L	XP_016868245.1
XM_017012757.1	2946	Missense Mutation	TCA,TTA	S736L	XP_016868246.1
XM_017012758.1	2946	Missense Mutation	TCA,TTA	S498L	XP_016868247.1
XM_017012759.1	2946	Missense Mutation	TCA,TTA	S498L	XP_016868248.1

Gene

MIR1285-1

Gene Name

microRNA 1285-1

There are no transcripts associated with this gene.

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