Product Details

SNP ID

rs182699929

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:151490023 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGATACCGTTGTCTGTTGGGTA[A/G]CAACTGAAGATGATCGTTGTTGTGG

Phenotype

MIM: 161650 MIM: 608952

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NEB PubMed Links

Gene Details

Gene

NEB

Gene Name

nebulin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164507.1	25449	Missense Mutation	GCT,GTT	A8451V	NP_001157979.1
NM_001164508.1	25449	Missense Mutation	GCT,GTT	A8451V	NP_001157980.1
NM_001271208.1	25449	Missense Mutation	GCT,GTT	A8486V	NP_001258137.1
NM_004543.4	25449	Missense Mutation	GCT,GTT	A6595V	NP_004534.2
XM_005246590.2	25449	Missense Mutation	GCT,GTT	A8420V	XP_005246647.1
XM_005246591.2	25449	Missense Mutation	GCT,GTT	A8420V	XP_005246648.1
XM_005246592.2	25449	Missense Mutation	GCT,GTT	A8420V	XP_005246649.1
XM_005246593.2	25449	Missense Mutation	GCT,GTT	A8420V	XP_005246650.1
XM_005246594.2	25449	Missense Mutation	GCT,GTT	A8420V	XP_005246651.1
XM_005246596.2	25449	Missense Mutation	GCT,GTT	A8389V	XP_005246653.1
XM_005246597.2	25449	Missense Mutation	GCT,GTT	A8389V	XP_005246654.1
XM_005246598.2	25449	Missense Mutation	GCT,GTT	A8389V	XP_005246655.1
XM_005246599.2	25449	Missense Mutation	GCT,GTT	A8358V	XP_005246656.1
XM_005246600.2	25449	Missense Mutation	GCT,GTT	A8358V	XP_005246657.1
XM_005246601.2	25449	Missense Mutation	GCT,GTT	A8327V	XP_005246658.1
XM_005246602.2	25449	Missense Mutation	GCT,GTT	A8327V	XP_005246659.1
XM_005246603.2	25449	Missense Mutation	GCT,GTT	A8296V	XP_005246660.1
XM_005246604.2	25449	Missense Mutation	GCT,GTT	A8296V	XP_005246661.1
XM_005246606.2	25449	Missense Mutation	GCT,GTT	A8296V	XP_005246663.1
XM_005246608.2	25449	Missense Mutation	GCT,GTT	A8265V	XP_005246665.1
XM_005246610.2	25449	Missense Mutation	GCT,GTT	A8234V	XP_005246667.1
XM_005246611.2	25449	Missense Mutation	GCT,GTT	A8234V	XP_005246668.1
XM_005246612.2	25449	Missense Mutation	GCT,GTT	A8208V	XP_005246669.1
XM_005246613.2	25449	Missense Mutation	GCT,GTT	A8208V	XP_005246670.1
XM_005246615.2	25449	Missense Mutation	GCT,GTT	A8203V	XP_005246672.1
XM_005246616.1	25449	Intron			XP_005246673.1
XM_005246617.2	25449	Missense Mutation	GCT,GTT	A7479V	XP_005246674.1
XM_006712541.2	25449	Missense Mutation	GCT,GTT	A8296V	XP_006712604.1
XM_006712542.2	25449	Missense Mutation	GCT,GTT	A8296V	XP_006712605.1
XM_011511225.2	25449	Missense Mutation	GCT,GTT	A8203V	XP_011509527.1
XM_011511226.2	25449	Missense Mutation	GCT,GTT	A7722V	XP_011509528.1
XM_011511227.2	25449	Missense Mutation	GCT,GTT	A6993V	XP_011509529.1
XM_017004177.1	25449	Missense Mutation	GCT,GTT	A8414V	XP_016859666.1
XM_017004178.1	25449	Missense Mutation	GCT,GTT	A8389V	XP_016859667.1
XM_017004179.1	25449	Missense Mutation	GCT,GTT	A8296V	XP_016859668.1
XM_017004180.1	25449	Missense Mutation	GCT,GTT	A8296V	XP_016859669.1
XM_017004181.1	25449	Missense Mutation	GCT,GTT	A8265V	XP_016859670.1
XM_017004182.1	25449	Missense Mutation	GCT,GTT	A8234V	XP_016859671.1
XM_017004183.1	25449	Missense Mutation	GCT,GTT	A8203V	XP_016859672.1
XM_017004184.1	25449	Missense Mutation	GCT,GTT	A8203V	XP_016859673.1
XM_017004185.1	25449	Missense Mutation	GCT,GTT	A8110V	XP_016859674.1

Gene

RIF1

Gene Name

replication timing regulatory factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001177663.1	25449	Intron			NP_001171134.1
NM_001177664.1	25449	Intron			NP_001171135.1
NM_001177665.1	25449	Intron			NP_001171136.1
NM_018151.4	25449	Intron			NP_060621.3
XM_005246665.3	25449	Intron			XP_005246722.1
XM_011511395.2	25449	Intron			XP_011509697.1
XM_017004422.1	25449	Intron			XP_016859911.1
XM_017004423.1	25449	Intron			XP_016859912.1
XM_017004424.1	25449	Intron			XP_016859913.1
XM_017004425.1	25449	Intron			XP_016859914.1

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