Product Details

SNP ID

rs145089798

Assay Type

Functionally Tested

NCBI dbSNP Submissions

2

Location

Chr.1:47251516 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTCTTTCTGACCACCAAGCTGTT[C/T]AGGTATGGACCTAAGGTTCTGATTC

Phenotype

MIM: 181590

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

STIL PubMed Links

Additional Information

For this assay, SNP(s) [rs2758735] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

STIL

Gene Name

SCL/TAL1 interrupting locus

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001048166.1	2918	Missense Mutation	AAA,GAA	K1163E	NP_001041631.1
NM_001282936.1	2918	Missense Mutation	AAA,GAA	K1162E	NP_001269865.1
NM_001282937.1	2918	Missense Mutation	AAA,GAA	K1145E	NP_001269866.1
NM_001282938.1	2918	Missense Mutation	AAA,GAA	K1116E	NP_001269867.1
NM_001282939.1	2918	Missense Mutation	AAA,GAA	K1098E	NP_001269868.1
NM_003035.2	2918	Missense Mutation	AAA,GAA	K1162E	NP_003026.2
XM_006710834.3	2918	Missense Mutation	AAA,GAA	K1163E	XP_006710897.1
XM_011541991.2	2918	Missense Mutation	AAA,GAA	K1163E	XP_011540293.1
XM_011541992.2	2918	Missense Mutation	AAA,GAA	K1163E	XP_011540294.1
XM_011541994.2	2918	Missense Mutation	AAA,GAA	K1145E	XP_011540296.1
XM_011541996.2	2918	Missense Mutation	AAA,GAA	K1116E	XP_011540298.1
XM_011541998.2	2918	Missense Mutation	AAA,GAA	K1098E	XP_011540300.1
XM_011542001.2	2918	UTR 3			XP_011540303.1
XM_017002123.1	2918	Missense Mutation	AAA,GAA	K1115E	XP_016857612.1
XM_017002124.1	2918	Missense Mutation	AAA,GAA	K926E	XP_016857613.1
XM_017002125.1	2918	UTR 3			XP_016857614.1
XM_017002126.1	2918	UTR 3			XP_016857615.1
XM_017002127.1	2918	Intron			XP_016857616.1

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