Product Details

SNP ID

rs145490292

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:52495487 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGCAGGCTTCAGCTTCGTCAGGG[A/G]GCAGGTAAGTGTGAGCCAGTCGCAG

Phenotype

MIM: 615507 MIM: 608560

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NISCH PubMed Links

Gene Details

Gene

NISCH

Gene Name

nischarin

There are no transcripts associated with this gene.

Gene

STAB1

Gene Name

stabilin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015136.2	150	Missense Mutation	GAG,GGG	E25G	NP_055951.2
XM_005264973.3	150	Missense Mutation	GAG,GGG	E25G	XP_005265030.1
XM_005264974.2	150	Missense Mutation	GAG,GGG	E25G	XP_005265031.1
XM_006713065.1	150	Missense Mutation	GAG,GGG	E25G	XP_006713128.1
XM_017005998.1	150	Missense Mutation	GAG,GGG	E25G	XP_016861487.1
XM_017005999.1	150	Missense Mutation	GAG,GGG	E25G	XP_016861488.1
XM_017006000.1	150	Missense Mutation	GAG,GGG	E25G	XP_016861489.1
XM_017006001.1	150	Missense Mutation	GAG,GGG	E25G	XP_016861490.1
XM_017006002.1	150	Missense Mutation	GAG,GGG	E25G	XP_016861491.1
XM_017006003.1	150	Missense Mutation	GAG,GGG	E25G	XP_016861492.1
XM_017006004.1	150	Missense Mutation	GAG,GGG	E25G	XP_016861493.1

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