Product Details

SNP ID

rs199500112

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:88173364 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTCTGAGCTCCTTCCAAAAGAT[C/G]AATTAAATGGTGAGTGCTCCCACCT

Phenotype

MIM: 611261

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

THNSL2 PubMed Links

Gene Details

Gene

THNSL2

Gene Name

threonine synthase like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001244676.1	2127	Missense Mutation	CAA,GAA	Q72E	NP_001231605.1
NM_001244678.1	2127	Intron			NP_001231607.1
NM_018271.4	2127	Missense Mutation	CAA,GAA	Q72E	NP_060741.3
XM_005264400.4	2127	Missense Mutation	CAA,GAA	Q72E	XP_005264457.1
XM_005264401.4	2127	Missense Mutation	CAA,GAA	Q72E	XP_005264458.1
XM_005264402.3	2127	Missense Mutation	CAA,GAA	Q72E	XP_005264459.1
XM_005264403.4	2127	Missense Mutation	CAA,GAA	Q72E	XP_005264460.1
XM_005264405.4	2127	Missense Mutation	CAA,GAA	Q72E	XP_005264462.1
XM_006712041.3	2127	Missense Mutation	CAA,GAA	Q72E	XP_006712104.1
XM_006712042.3	2127	Missense Mutation	CAA,GAA	Q72E	XP_006712105.1
XM_006712043.2	2127	Missense Mutation	CAA,GAA	Q72E	XP_006712106.1
XM_006712044.3	2127	Missense Mutation	CAA,GAA	Q72E	XP_006712107.1
XM_011532953.2	2127	Missense Mutation	CAA,GAA	Q72E	XP_011531255.1
XM_011532954.2	2127	Missense Mutation	CAA,GAA	Q72E	XP_011531256.1
XM_011532955.2	2127	Intron			XP_011531257.1

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