Product Details

SNP ID

rs199565369

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:47251425 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTGTAATATTTCTCAATACTGGC[A/G]TATCTGCGTTGGTCCCCACAGATTC

Phenotype

MIM: 181590

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

STIL PubMed Links

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	3009	Missense Mutation	ACG,ATG	T1193M	NP_001041631.1
NM_001282936.1	3009	Missense Mutation	ACG,ATG	T1192M	NP_001269865.1
NM_001282937.1	3009	Missense Mutation	ACG,ATG	T1175M	NP_001269866.1
NM_001282938.1	3009	Missense Mutation	ACG,ATG	T1146M	NP_001269867.1
NM_001282939.1	3009	Missense Mutation	ACG,ATG	T1128M	NP_001269868.1
NM_003035.2	3009	Missense Mutation	ACG,ATG	T1192M	NP_003026.2
XM_006710834.3	3009	Missense Mutation	ACG,ATG	T1193M	XP_006710897.1
XM_011541991.2	3009	Missense Mutation	ACG,ATG	T1193M	XP_011540293.1
XM_011541992.2	3009	Missense Mutation	ACG,ATG	T1193M	XP_011540294.1
XM_011541994.2	3009	Missense Mutation	ACG,ATG	T1175M	XP_011540296.1
XM_011541996.2	3009	Missense Mutation	ACG,ATG	T1146M	XP_011540298.1
XM_011541998.2	3009	Missense Mutation	ACG,ATG	T1128M	XP_011540300.1
XM_011542001.2	3009	UTR 3			XP_011540303.1
XM_017002123.1	3009	Missense Mutation	ACG,ATG	T1145M	XP_016857612.1
XM_017002124.1	3009	Missense Mutation	ACG,ATG	T956M	XP_016857613.1
XM_017002125.1	3009	UTR 3			XP_016857614.1
XM_017002126.1	3009	UTR 3			XP_016857615.1
XM_017002127.1	3009	Intron			XP_016857616.1

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