Product Details

SNP ID

rs2297373

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.6:160122058 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

CGCCCATCTGTGTGGGCATCGTCTT[C/G]CTGGGTTTCACACCTGACCACCACT

Phenotype

MIM: 602607

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SLC22A1 PubMed Links

Gene Details

Gene

SLC22A1

Gene Name

solute carrier family 22 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003057.2	270	Missense Mutation	TTC,TTG	F41L	NP_003048.1
NM_153187.1	270	Missense Mutation	TTC,TTG	F41L	NP_694857.1
XM_005267102.4	270	Missense Mutation	TTC,TTG	F41L	XP_005267159.1
XM_005267103.1	270	Missense Mutation	TTC,TTG	F41L	XP_005267160.1
XM_005267104.4	270	Intron			XP_005267161.1
XM_005267105.4	270	Intron			XP_005267162.1
XM_006715552.1	270	Missense Mutation	TTC,TTG	F41L	XP_006715615.1
XM_011536074.2	270	Intron			XP_011534376.1

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