Product Details

SNP ID: rs117608840
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:18435400 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGTGGAAGGTCTGCGGCTCGGGGTC[C/T]ATGTCAGTGCAGAAGCTCACGCGCT
Phenotype: MIM: 600284 MIM: 611670 MIM: 607391
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ELL PubMed Links

Gene Details

Gene: ELL
Gene Name: elongation factor for RNA polymerase II

There are no transcripts associated with this gene.

Gene: ISYNA1
Gene Name: inositol-3-phosphate synthase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170938.1	1260	Missense Mutation	ATA,ATG	I392M	NP_001164409.1
NM_001253389.1	1260	Missense Mutation	ATA,ATG	I318M	NP_001240318.1
NM_016368.4	1260	Missense Mutation	ATA,ATG	I446M	NP_057452.1
XM_011528059.1	1260	Missense Mutation	ATA,ATG	I514M	XP_011526361.1

Gene: SSBP4
Gene Name: single stranded DNA binding protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009998.3	1260	Intron			NP_001009998.1
NM_032627.4	1260	Intron			NP_116016.1
XM_005259790.3	1260	Intron			XP_005259847.1
XM_006722665.3	1260	Intron			XP_006722728.1
XM_006722666.2	1260	Intron			XP_006722729.1
XM_006722668.2	1260	Intron			XP_006722731.1
XM_017026431.1	1260	Intron			XP_016881920.1
XM_017026432.1	1260	Intron			XP_016881921.1
XM_017026433.1	1260	Intron			XP_016881922.1
XM_017026434.1	1260	Intron			XP_016881923.1
XM_017026435.1	1260	Intron			XP_016881924.1
XM_017026436.1	1260	Intron			XP_016881925.1
XM_017026437.1	1260	Intron			XP_016881926.1

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