Product Details

SNP ID

rs138253216

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49294407 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTATGTTGCACTCAGTCACCTCG[C/T]GGAGAACCATGCTTTTGATGTGCTG

Phenotype

MIM: 607972

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SLC6A16 PubMed Links

Gene Details

Gene

SLC6A16

Gene Name

solute carrier family 6 member 16

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014037.2	1626	Missense Mutation	CAC,CGC	H459R	NP_054756.2
XM_005258820.2	1626	Missense Mutation	CAC,CGC	H459R	XP_005258877.1
XM_006723168.3	1626	Missense Mutation	CAC,CGC	H459R	XP_006723231.1
XM_011526859.2	1626	Missense Mutation	CAC,CGC	H504R	XP_011525161.2
XM_011526860.2	1626	Missense Mutation	CAC,CGC	H481R	XP_011525162.1
XM_011526861.2	1626	Missense Mutation	CAC,CGC	H312R	XP_011525163.1
XM_017026712.1	1626	Missense Mutation	CAC,CGC	H541R	XP_016882201.1

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