Product Details

SNP ID

rs9678851

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.2:27664167 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TCTACAGGAGGAGCAGTCGCGCCCC[A/C]CGACAGCGGTTTCTTCCCCTGGCGG

Phenotype

MIM: 602655 MIM: 612762

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

SLC4A1AP PubMed Links

Gene Details

Gene

SLC4A1AP

Gene Name

solute carrier family 4 member 1 adaptor protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018158.2	697	Missense Mutation	ACG,CCG	T139P	NP_060628.2

Gene

SUPT7L

Gene Name

SPT7-like STAGA complex gamma subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282729.1	697	Intron			NP_001269658.1
NM_001282730.1	697	Intron			NP_001269659.1
NM_001282731.1	697	Intron			NP_001269660.1
NM_001282732.1	697	Intron			NP_001269661.1
NM_014860.2	697	Intron			NP_055675.1
XM_005264672.4	697	Intron			XP_005264729.1

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