Product Details

SNP ID

rs111942686

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:150999380 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAACTCGCATTACCTTATGCTTAG[C/T]CATGGTGCTAAAGTGGTTGTTTCGG

Phenotype

MIM: 603319

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ANXA9 PubMed Links

Gene Details

Gene

ANXA9

Gene Name

annexin A9

There are no transcripts associated with this gene.

Gene

FAM63A

Gene Name

family with sequence similarity 63 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040217.2	1650	Missense Mutation	ACT,GCT	T182A	NP_001035307.1
NM_001163258.1	1650	Missense Mutation	ACT,GCT	T372A	NP_001156730.1
NM_001163259.1	1650	Missense Mutation	ACT,GCT	T229A	NP_001156731.1
NM_001163260.1	1650	Missense Mutation	ACT,GCT	T182A	NP_001156732.1
NM_001319998.1	1650	Missense Mutation	ACT,GCT	T324A	NP_001306927.1
NM_018379.4	1650	Missense Mutation	ACT,GCT	T324A	NP_060849.2
XM_005245321.3	1650	Missense Mutation	ACT,GCT	T325A	XP_005245378.1
XM_005245325.3	1650	Missense Mutation	ACT,GCT	T183A	XP_005245382.1
XM_005245327.3	1650	Missense Mutation	ACT,GCT	T159A	XP_005245384.1
XM_005245328.3	1650	Missense Mutation	ACT,GCT	T158A	XP_005245385.1
XM_011509757.2	1650	Missense Mutation	ACT,GCT	T325A	XP_011508059.1
XM_011509759.2	1650	Missense Mutation	ACT,GCT	T271A	XP_011508061.1
XM_017001770.1	1650	Missense Mutation	ACT,GCT	T324A	XP_016857259.1
XM_017001771.1	1650	Missense Mutation	ACT,GCT	T324A	XP_016857260.1
XM_017001772.1	1650	Missense Mutation	ACT,GCT	T324A	XP_016857261.1
XM_017001773.1	1650	Missense Mutation	ACT,GCT	T324A	XP_016857262.1
XM_017001774.1	1650	Missense Mutation	ACT,GCT	T324A	XP_016857263.1
XM_017001775.1	1650	Missense Mutation	ACT,GCT	T271A	XP_016857264.1
XM_017001776.1	1650	Missense Mutation	ACT,GCT	T271A	XP_016857265.1
XM_017001777.1	1650	Missense Mutation	ACT,GCT	T372A	XP_016857266.1

Gene

PRUNE1

Gene Name

prune exopolyphosphatase

There are no transcripts associated with this gene.

View Full Product Details