Product Details

SNP ID

rs184068804

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:8413603 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTGCTTCCACTGATTTGTTTAT[C/G]AAATCATACAGTGATGGTAGTCTTA

Phenotype

MIM: 610845

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SLC35B3 PubMed Links

Gene Details

Gene

SLC35B3

Gene Name

solute carrier family 35 member B3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142541.2	1373	Missense Mutation	TTC,TTG	F384L	NP_001136013.1
NM_015948.4	1373	Missense Mutation	TTC,TTG	F384L	NP_057032.2
XM_005249156.3	1373	Missense Mutation	TTC,TTG	F386L	XP_005249213.1
XM_005249157.2	1373	Missense Mutation	TTC,TTG	F384L	XP_005249214.1
XM_005249158.1	1373	Missense Mutation	TTC,TTG	F352L	XP_005249215.1
XM_006715102.3	1373	Missense Mutation	TTC,TTG	F384L	XP_006715165.1
XM_006715103.3	1373	Missense Mutation	TTC,TTG	F355L	XP_006715166.1
XM_011514648.1	1373	Missense Mutation	TTC,TTG	F352L	XP_011512950.1
XM_011514650.2	1373	Intron			XP_011512952.1
XM_017010910.1	1373	Missense Mutation	TTC,TTG	F384L	XP_016866399.1
XM_017010911.1	1373	Missense Mutation	TTC,TTG	F384L	XP_016866400.1
XM_017010912.1	1373	Missense Mutation	TTC,TTG	F353L	XP_016866401.1
XM_017010913.1	1373	Missense Mutation	TTC,TTG	F353L	XP_016866402.1
XM_017010914.1	1373	Missense Mutation	TTC,TTG	F352L	XP_016866403.1
XM_017010915.1	1373	Missense Mutation	TTC,TTG	F321L	XP_016866404.1

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