Product Details

SNP ID

rs56300302

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:121080850 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTTGTTCCAAAATTTCCATGTAT[G/T]CAAAATAATCACTCACTCGAAACCC

Phenotype

MIM: 615867

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

TBC1D32 PubMed Links

Gene Details

Gene

TBC1D32

Gene Name

TBC1 domain family member 32

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152730.5	3947	Missense Mutation	GAA,GCA	E1232A	NP_689943.4
XM_005266861.2	3947	Missense Mutation	GAA,GCA	E1273A	XP_005266918.1
XM_011535569.1	3947	Missense Mutation	GAA,GCA	E1294A	XP_011533871.1
XM_011535570.1	3947	Missense Mutation	GAA,GCA	E1294A	XP_011533872.1
XM_011535571.2	3947	Missense Mutation	GAA,GCA	E1294A	XP_011533873.1
XM_011535574.1	3947	Missense Mutation	GAA,GCA	E1185A	XP_011533876.1
XM_011535575.2	3947	Intron			XP_011533877.1
XM_011535576.2	3947	Intron			XP_011533878.1
XM_011535580.2	3947	Missense Mutation	GAA,GCA	E901A	XP_011533882.1
XM_011535582.2	3947	Intron			XP_011533884.1
XM_011535585.2	3947	Intron			XP_011533887.1
XM_017010397.1	3947	Missense Mutation	GAA,GCA	E1273A	XP_016865886.1
XM_017010398.1	3947	Missense Mutation	GAA,GCA	E1273A	XP_016865887.1
XM_017010399.1	3947	Missense Mutation	GAA,GCA	E1253A	XP_016865888.1
XM_017010400.1	3947	Missense Mutation	GAA,GCA	E1252A	XP_016865889.1
XM_017010401.1	3947	Missense Mutation	GAA,GCA	E1232A	XP_016865890.1
XM_017010402.1	3947	Intron			XP_016865891.1
XM_017010403.1	3947	Intron			XP_016865892.1
XM_017010404.1	3947	Missense Mutation	GAA,GCA	E690A	XP_016865893.1
XM_017010405.1	3947	Intron			XP_016865894.1

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