Product Details

SNP ID

rs144611436

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47915362 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGCTGTGAGTCCCAGTGACTAC[C/T]TGCAGCCTGCCGCCTCCACCACCCA

Phenotype

MIM: 601801

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SP2 PubMed Links

Gene Details

Gene

SP2

Gene Name

Sp2 transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003110.5	917	Silent Mutation	CTG,TTG	L20L	NP_003101.3
XM_006722023.2	917	Silent Mutation	CTG,TTG	L20L	XP_006722086.1
XM_006722025.2	917	Silent Mutation	CTG,TTG	L13L	XP_006722088.1
XM_006722026.2	917	Silent Mutation	CTG,TTG	L13L	XP_006722089.1
XM_006722027.2	917	Silent Mutation	CTG,TTG	L13L	XP_006722090.1
XM_011525136.2	917	Silent Mutation	CTG,TTG	L124L	XP_011523438.1
XM_011525137.2	917	Silent Mutation	CTG,TTG	L124L	XP_011523439.1
XM_011525138.2	917	Silent Mutation	CTG,TTG	L124L	XP_011523440.1
XM_011525139.2	917	Silent Mutation	CTG,TTG	L80L	XP_011523441.1
XM_011525140.2	917	Silent Mutation	CTG,TTG	L124L	XP_011523442.1
XM_011525142.1	917	Silent Mutation	CTG,TTG	L13L	XP_011523444.1
XM_011525143.1	917	Silent Mutation	CTG,TTG	L13L	XP_011523445.1
XM_017024968.1	917	Silent Mutation	CTG,TTG	L13L	XP_016880457.1
XM_017024969.1	917	Silent Mutation	CTG,TTG	L13L	XP_016880458.1

Gene

SP2-AS1

Gene Name

SP2 antisense RNA 1

There are no transcripts associated with this gene.

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