Product Details

SNP ID

rs147270008

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:57757804 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCCACTTTTGATTGCAAAGTGCT[A/G]TCAAGGAACCACGCTCTCGTCTGGT

Phenotype

MIM: 602701

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SLMAP PubMed Links

Gene Details

Gene

SLMAP

Gene Name

sarcolemma associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304420.2	1379	Silent Mutation	CTA,CTG	L51L	NP_001291349.1
NM_001304421.2	1379	Silent Mutation	CTA,CTG	L51L	NP_001291350.1
NM_001304422.2	1379	Intron			NP_001291351.1
NM_001304423.2	1379	Intron			NP_001291352.1
NM_001311178.1	1379	Intron			NP_001298107.1
NM_001311179.1	1379	Intron			NP_001298108.1
NM_007159.4	1379	Silent Mutation	CTA,CTG	L51L	NP_009090.2
XM_005265456.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265513.1
XM_005265457.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265514.1
XM_005265458.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265515.1
XM_005265459.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265516.1
XM_005265460.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265517.1
XM_005265461.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265518.1
XM_005265462.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265519.1
XM_005265464.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265521.1
XM_005265465.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265522.1
XM_005265466.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265523.1
XM_005265467.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265524.1
XM_005265468.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265525.1
XM_005265470.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265527.1
XM_005265471.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265528.1
XM_005265472.3	1379	Silent Mutation	CTA,CTG	L51L	XP_005265529.1
XM_006713326.2	1379	Silent Mutation	CTA,CTG	L51L	XP_006713389.1
XM_011534103.1	1379	Silent Mutation	CTA,CTG	L51L	XP_011532405.1
XM_011534104.1	1379	Silent Mutation	CTA,CTG	L51L	XP_011532406.1
XM_011534105.1	1379	Silent Mutation	CTA,CTG	L51L	XP_011532407.1
XM_011534106.1	1379	Intron			XP_011532408.1
XM_017007146.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862635.1
XM_017007147.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862636.1
XM_017007148.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862637.1
XM_017007149.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862638.1
XM_017007150.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862639.1
XM_017007151.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862640.1
XM_017007152.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862641.1
XM_017007153.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862642.1
XM_017007154.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862643.1
XM_017007155.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862644.1
XM_017007156.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862645.1
XM_017007157.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862646.1
XM_017007158.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862647.1
XM_017007159.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862648.1
XM_017007160.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862649.1
XM_017007161.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862650.1
XM_017007162.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862651.1
XM_017007163.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862652.1
XM_017007164.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862653.1
XM_017007165.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862654.1
XM_017007166.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862655.1
XM_017007167.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862656.1
XM_017007168.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862657.1
XM_017007169.1	1379	Silent Mutation	CTA,CTG	L51L	XP_016862658.1
XM_017007170.1	1379	Intron			XP_016862659.1

View Full Product Details