Product Details

SNP ID

rs202164923

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:118658993 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCTGGAAAGCCACTTCCTGGGCC[C/T]GACGTAAAGGTGCCTTGGCCAGGCC

Phenotype

MIM: 612834 MIM: 275360

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PHLDB1 PubMed Links

Gene Details

Gene

PHLDB1

Gene Name

pleckstrin homology like domain family B member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144758.2	1502	Intron			NP_001138230.1
NM_001144759.2	1502	Intron			NP_001138231.1
NM_015157.3	1502	Intron			NP_055972.1
XM_005271468.3	1502	Intron			XP_005271525.1
XM_005271469.3	1502	Intron			XP_005271526.1
XM_005271470.3	1502	Intron			XP_005271527.1
XM_005271471.3	1502	Intron			XP_005271528.1
XM_005271472.3	1502	Intron			XP_005271529.1
XM_005271473.3	1502	Intron			XP_005271530.1
XM_005271474.4	1502	Intron			XP_005271531.1
XM_005271475.3	1502	Intron			XP_005271532.1
XM_005277680.3	1502	Intron			XP_005277737.1
XM_006718796.3	1502	Intron			XP_006718859.1
XM_006718797.3	1502	Intron			XP_006718860.1
XM_006718798.3	1502	Intron			XP_006718861.1
XM_006718799.3	1502	Intron			XP_006718862.1
XM_006718800.3	1502	Intron			XP_006718863.1
XM_006718801.3	1502	Intron			XP_006718864.1
XM_006718802.3	1502	Intron			XP_006718865.1
XM_006718803.3	1502	Intron			XP_006718866.1
XM_011542703.2	1502	Intron			XP_011541005.1
XM_011542704.2	1502	Intron			XP_011541006.1
XM_011542705.2	1502	Intron			XP_011541007.1
XM_011542706.2	1502	Intron			XP_011541008.1
XM_011542707.2	1502	Intron			XP_011541009.1
XM_011542708.2	1502	Intron			XP_011541010.1
XM_011542709.2	1502	Intron			XP_011541011.1
XM_011542710.2	1502	Intron			XP_011541012.1
XM_011542711.2	1502	Intron			XP_011541013.1
XM_011542713.2	1502	Intron			XP_011541015.1
XM_011542714.2	1502	Intron			XP_011541016.1
XM_011542715.2	1502	Intron			XP_011541017.1
XM_017017407.1	1502	Intron			XP_016872896.1
XM_017017408.1	1502	Intron			XP_016872897.1
XM_017017409.1	1502	Intron			XP_016872898.1
XM_017017410.1	1502	Intron			XP_016872899.1
XM_017017411.1	1502	Intron			XP_016872900.1

Gene

TREH

Gene Name

trehalase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301065.1	1502	Missense Mutation	CAG,CGG	Q455R	NP_001287994.1
NM_007180.2	1502	Missense Mutation	CAG,CGG	Q486R	NP_009111.2

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