Product Details

SNP ID

rs148570766

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:108788025 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCCACGAAGGGCTCTTTAAGTTT[C/T]CTGGGGCGGGTTTCCCTGATGGTTT

Phenotype

MIM: 606778

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SSH1 PubMed Links

Gene Details

Gene

SSH1

Gene Name

slingshot protein phosphatase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161330.1	2997	Intron			NP_001154802.1
NM_001161331.1	2997	Intron			NP_001154803.1
NM_018984.3	2997	Missense Mutation	GAA,GGA	E1038G	NP_061857.3
XM_005268984.4	2997	Missense Mutation	GAA,GGA	E1038G	XP_005269041.1
XM_005268985.2	2997	Missense Mutation	GAA,GGA	E958G	XP_005269042.1
XM_011538497.1	2997	Missense Mutation	GAA,GGA	E1049G	XP_011536799.1
XM_011538499.1	2997	Missense Mutation	GAA,GGA	E982G	XP_011536801.1
XM_011538500.2	2997	Missense Mutation	GAA,GGA	E958G	XP_011536802.1
XM_011538501.2	2997	Missense Mutation	GAA,GGA	E958G	XP_011536803.1
XM_017019491.1	2997	Missense Mutation	GAA,GGA	E1022G	XP_016874980.1
XM_017019492.1	2997	Missense Mutation	GAA,GGA	E912G	XP_016874981.1
XM_017019493.1	2997	Missense Mutation	GAA,GGA	E726G	XP_016874982.1
XM_017019494.1	2997	Missense Mutation	GAA,GGA	E726G	XP_016874983.1

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