Product Details

SNP ID

rs4292261

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:49111330 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGAACTGGGGTGTGTGGGCATTCA[A/T]AGCTTCACTTGGATGCTGGTACCCA

Phenotype

MIM: 150325 MIM: 603727 MIM: 614471

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

LAMB2 PubMed Links

Gene Details

Gene

LAMB2

Gene Name

laminin subunit beta 2

There are no transcripts associated with this gene.

Gene

QARS

Gene Name

glutaminyl-tRNA synthetase

There are no transcripts associated with this gene.

Gene

USP19

Gene Name

ubiquitin specific peptidase 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199160.1	3487	Missense Mutation	ATG,TTG	M1083L	NP_001186089.1
NM_001199161.1	3487	Missense Mutation	ATG,TTG	M1085L	NP_001186090.1
NM_001199162.1	3487	Missense Mutation	ATG,TTG	M1073L	NP_001186091.1
NM_006677.2	3487	Missense Mutation	ATG,TTG	M982L	NP_006668.1
XM_005264823.2	3487	Missense Mutation	ATG,TTG	M1087L	XP_005264880.1
XM_005264824.2	3487	Missense Mutation	ATG,TTG	M1087L	XP_005264881.1
XM_005264825.2	3487	Missense Mutation	ATG,TTG	M1085L	XP_005264882.1
XM_005264826.2	3487	Missense Mutation	ATG,TTG	M1085L	XP_005264883.1
XM_005264827.2	3487	Missense Mutation	ATG,TTG	M1072L	XP_005264884.1
XM_005264829.2	3487	Missense Mutation	ATG,TTG	M1087L	XP_005264886.1
XM_005264830.2	3487	Missense Mutation	ATG,TTG	M986L	XP_005264887.1
XM_005264831.2	3487	Missense Mutation	ATG,TTG	M969L	XP_005264888.1
XM_006712946.2	3487	Missense Mutation	ATG,TTG	M1086L	XP_006713009.1
XM_006712947.2	3487	Missense Mutation	ATG,TTG	M1069L	XP_006713010.1
XM_006712948.2	3487	Missense Mutation	ATG,TTG	M1083L	XP_006713011.1
XM_006712949.2	3487	Missense Mutation	ATG,TTG	M1037L	XP_006713012.1
XM_006712950.2	3487	Missense Mutation	ATG,TTG	M1070L	XP_006713013.1
XM_006712951.2	3487	Missense Mutation	ATG,TTG	M1069L	XP_006713014.1
XM_006712952.2	3487	Missense Mutation	ATG,TTG	M1068L	XP_006713015.1
XM_006712953.1	3487	Missense Mutation	ATG,TTG	M1068L	XP_006713016.1
XM_017005615.1	3487	Missense Mutation	ATG,TTG	M1084L	XP_016861104.1
XM_017005616.1	3487	Missense Mutation	ATG,TTG	M1082L	XP_016861105.1
XM_017005617.1	3487	Missense Mutation	ATG,TTG	M1070L	XP_016861106.1
XM_017005618.1	3487	Missense Mutation	ATG,TTG	M1085L	XP_016861107.1
XM_017005619.1	3487	Missense Mutation	ATG,TTG	M1084L	XP_016861108.1
XM_017005620.1	3487	Missense Mutation	ATG,TTG	M1082L	XP_016861109.1
XM_017005621.1	3487	Missense Mutation	ATG,TTG	M1035L	XP_016861110.1
XM_017005622.1	3487	Missense Mutation	ATG,TTG	M1072L	XP_016861111.1
XM_017005623.1	3487	Missense Mutation	ATG,TTG	M1033L	XP_016861112.1
XM_017005624.1	3487	Missense Mutation	ATG,TTG	M1033L	XP_016861113.1
XM_017005625.1	3487	Missense Mutation	ATG,TTG	M984L	XP_016861114.1
XM_017005626.1	3487	Missense Mutation	ATG,TTG	M982L	XP_016861115.1
XM_017005627.1	3487	Missense Mutation	ATG,TTG	M971L	XP_016861116.1
XM_017005628.1	3487	Missense Mutation	ATG,TTG	M969L	XP_016861117.1
XM_017005629.1	3487	Missense Mutation	ATG,TTG	M967L	XP_016861118.1
XM_017005630.1	3487	Missense Mutation	ATG,TTG	M986L	XP_016861119.1
XM_017005631.1	3487	Missense Mutation	ATG,TTG	M984L	XP_016861120.1
XM_017005632.1	3487	Missense Mutation	ATG,TTG	M984L	XP_016861121.1
XM_017005633.1	3487	Missense Mutation	ATG,TTG	M982L	XP_016861122.1
XM_017005634.1	3487	Missense Mutation	ATG,TTG	M971L	XP_016861123.1
XM_017005635.1	3487	Missense Mutation	ATG,TTG	M535L	XP_016861124.1

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